a
- Abdominal aortic aneurysmA weakening and bulge in the lower portion of the body's main artery. Rupture of this and other kinds of aneuryms can be fatal. Mitochondrial dysfunction is now thought to contribute to formation of t
- Abdominal bruitA swishing or washing machine-like sound heard with a stethoscope over the spleen, renal arteries or abdominal aorta.
- AccommodationsChanges that remove the barriers to learning. They can also change how and what the children is expected to learn and know.
- Accommodations for disabilities, school and workChanges in procedures and expections that remove disability-caused barriers to learning, in school, and job performance, in the workplace.
- Addison's Disease
- Addison's Disease (Adrenal Insufficiency)
- Adenosine triphosphate (ATP)A small organic molecule, chemically related to DNA, sometimes called the currency of energy in the body. The energy-yielding breakdown of ATP powers nearly all energy-requiring processes in the cell,
- AdenovirusA commonly-occurring group of viruses, first discovered in tonsils, that typically cause respiratory infections.
- Age related Macular DegenerationIt is the result of a part of the retina called the macula is damaged.
- Age related Macular Degeneration (AMD)Result of age-related damage to the macula, the functional center of the retina, by which you perceive what is directly in front of you. Mitochondrial dysfunction has been implicated in the disease pr
- Alpers DiseaseA progressive, neurodevelopmental mitochondrial DnA depletion syndrome. it is characterized by psychomotor regression (dementia), seizures and liver disease.
- Alpers Disease
- Alpha lipoic acidA small, vitamin-like organic molecule,made in the mitochondria, and found in every cell. It plays multiple essential roles. It is a necessary co-factor for the activity of five different enzyme compl
- Alpha tocotrienolA member of the vitamin E family.
- Amniotic fluidThe fluid that surrounds a baby during gestation. The amnion is a membrane that grows to envelop the embryo early in its development, becoming the amniotic sac as the space between it and the embryo g
- Amniotic fluid
- Amyotrophic lateral sclerosisA progressive nervous system disease that affects nerve cells in the brain and spinal cord, causing loss of muscle control.
- Amyotrophic lateral sclerosis (ALS; Lou Gehrig's disease)
- AnemiaA reduced number of oxygen-carrying red blood cells in the blood. The resulting lower availability of oxygen can make you feel tired and weak. Mitochondrial dysfunction appears to play a role in some
- Angelman SyndromeA genetic disorder primarily affecting the nervous system. Characteristic symptoms include delayed development, intellectual disability, severe speech impairment, and problems with movement and balanc
- AnhidrosisA rare condition in which the sweat glands secrete little or no sweat. One cause is dysautonomia, i.e., dysfunction of the autonomic nervous system, which regulates involuntary/ unconscious physiologi
- Ankylosing SpondylitisAn inflammatory disease that can cause some of the bones in the spine to fuse, over time.
- Ankylosing Spondylitis AS)Autoimmune disorder affecting mainly the back. Belong to the group called rheumatic diseases, i.e., those affecting joints, tendons, ligaments, bones and muscles. Can result in eventual disabling fusi
- Antagonistic pleiotropyA control of more than one trait, where at least one of the traits is beneficial to the organism's fitness early on in life and at least one is detrimental to the organism's fitness, later on due to d
- Antagonistic pleiotropy
- AntibodyA blood protein, made by plasma cells (a type of white blood cell, part of the immune system), in response to and counteracting a specific antigen (object or substance).
- AntigenAn object or substance that causes the immune system to produce specific antibodies against it. Examples include particular chemicals, bacteria, viruses
- Antinuclear AntibodiesAntibodies that cause disease by mistakenly attacking healthy cells and tissue.
- Antinuclear Antibodies
- Antinuclear Antibodies (ANA)Antibodies made by the body that attack molecules, including DNA and proteins, in the body's own cell nuclei. This is a form of autoimmunity, and can grievously harm healthy cells and tissue, though i
- AntiproliferativeUsed to or tending to inhibit cell growth.
- AntispasmodicCapable of preventing or relieving spasms or convulsions.
- AntispasmodicsDrugs that can suppress muscle spasms. Some antispasmodics are better for spasms in smooth muscle (for example that in the digestive tract), others for skeletal muscle spasms.
- ApoptosisThe well-regulated process of programmed, intentional cell death. It allows for controlled removal of cells that are either defective or diseases, or are no longer needed and due to be replaced as a p
- Apraxia of SpeechAn uncommon speech disorder in which a child has difficulty making accurate movements when speaking.
- Ascorbic AcidAn antioxidant that helps replenish Vitamin E.
- AsparagineA beta-amido derivative of aspartic acid and plays an important role in the biosynthesis of glycoprotein.
- Asparagine
- AST/ALTALT stands for alanine transaminase which i another type of liver enzyme. If you have high levels of AST and or ALT it may mean that you have some type of liver damage.
- AtaxiaImpaired coordination of voluntary muscle movements. Manifestations can include, among others, slurred speech, poor balance, unsteady walking, falling, and involuntary eye movements (nystagmus). Usual
- AudiologyThe branch of medicine focusing on hearing. Providers have a Doctor of Audiology degree. Hearing loss occurs in multiple types of mitochondrial disease.
- AutoimmunityThe immune responses of an organism against its own healthy cells, tissues and other normal body constituents. Specifically, the presence of antibodies or T cells that react with the body's own protei
- Autonomic DysreflexiaA potentially life-threatening condition of the autonomic nervous system following spinal cord injury to the chest or neck. A common presentation is sudden increase in blood pressure accompanied by sy
- Autosomal dominantWhen a genetic condition is caused by a change to one of someone's two copies of a gene. Autosomal conditions do not include the X or Y chromosome.
- Autosomal dominant (AD) inheritanceWhen a genetic condition is caused by a change to one of someone's two copies of a gene. Autosomal conditions do not include the X or Y chromosome.
- Autosomal recessiveWhen a genetic condition is caused by changes to both of someone's copies of a gene. Autosomal conditions do not include the X or Y chromosome.
- Autosomal recessive (AR) inheritanceWhen a genetic condition is caused by changes to both of someone's copies of a gene. Autosomal conditions do not include the X or Y chromosome.
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- B- type Natriuretic peptideBNP, NT-ProBNP
- B- type Natriuretic peptide
- B- type Natriuretic peptide (BNP, NT-ProBNP)Gives information on how heart is functioning/ pumping. Protein measured to diagnose or rule out heart failure.
- BaclofenDrug derived from a naturally-occurring, calming brain neurotransmitter, used to treat muscle spasticity resulting from neuromuscular disorders including mitochondrial disease.
- BARTH syndromeA rare, genetic disorder of lipid metabolism that primarily affects males.
- Basal GangliaA group of structures in the base of the brain. That are primarily responsible for motor control, motor learning, executive function, behavior, and emotions.
- Basal Ganglia
- Behcet's Syndrome
- BicarbonateThe dissolved form of CO2, a main by-product of converting food to energy. Abnormal levels of bicarbonate in the blood, both high and low, can be markers for several types of illness.
- BicitraA medicine used to make urine less acidic.
- Bicitra (sodium citrate)A medicine used to treat high acidity of the blood and/urine, a common problem in mitochondrial disease. In the body it is converted to sodium bicarbonate, a standard alkalizing agent.
- Bilious VomitVomitus is typically clear or slightly yellowish. Vomit the color of bile (green, yellow or a mixture of the two) strongly suggests an intestinal blockage, because bile, which is ordinarily released i
- BilirubinA yellowish pigment made during the normal breakdown of red blood cells, and removed by the liver. Higher than normal blood levels of bilirubin can reflect dysfunction in the liver, bile duct or elsew
- BiomarkerAn objectively determinable property of an organism that is useful in detecting a particular biological state or condition. For example, the presence of human chorionic gonadotropin (HCG) hormone in t
- BiPAP (Bilevel Positive Airway Pressure) ventilationA form of non-invasive ventilation which provides positive air pressure to help with inhalation, plus an adjustable different pressure during exhalation, to accommodate possible weakness of muscles us
- BiPAP MachineA bilevel positive airway pressure machine. When breathed in the BiPAP deliver air pressure. When blown out the machine reduces air pressure.
- Blood Gases TestThe measurement of the amount of oxygen and carbon dioxide in the blood. It can be used to determine the pH or acidity of the blood. This measurement is conducted using a blood sample from an artery.
- Borderline low plasma Alpha Amino Acid Butyric AcidAn intermediate occurring in the catabolism of two essential amino acid methionine and threonine. Possible increased need for the nutrients which aid in threonine metabolism from which this AA id deri
- BradycardiaA slower than normal heart rate, usually defined as fewer than 60 beats per minute. Bradycardia occurs in some forms of mitochondrial disease
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- C-DiffA bacterium that can cause symptoms ranging from diarrhea to life threatening inflammation of the colon.
- C-Diff (Clostridioides difficile)A highly contagious bacterium infecting the large intestine, that can cause symptoms ranging from diarrhea to life threatening inflammation of the colon. Typically occurs after antibiotic use has kill
- c16 PalmitateA fatty acid with a 16-carbon chain. It is the most common saturated fatty acid found in animals. plants and microorganisms.
- CachexiaMulti-system syndrome that includes loss of weight, muscle mass and appetite; insulin resistance, systemic inflammation and functional decline. Seen in advanced cancer and some chronic diseases. Often
- Cardiac ArrhythmiaIrregular rate or rhythm of the heartbeat.
- Cardiac Arrhythmia (Irregular heartbeat)Irregular rate or rhythm of the heartbeat. Can be fatal. Mitochondrial dysfunction appears to play an important role in arrthymias
- CardiologyThe branch of medicine focusing on the heart and circulatory system
- CardiomyopathyAn abnormal condition of the heart muscle. Occurs in some kinds of mitochondrial disease.
- Cardiomyopathy
- Cardiopulmonary Exercise testCPET
- Cardiopulmonary Exercise test
- Cardiopulmonary Exercise test (CPET)A non-invasive method used to assess the performance of the heart and lungs at rest and during exercise.
- Carnitine Palmitoyltransferase DeficiencyA problem the occurs in the CPT1 and 2 which are enzymes. They help transit and utilize fatty acids in the cells.
- Carnitine Palmitoyltransferase Deficiency
- CarrierA person who has one copy of a genetic change. For many conditions, carriers do not show symptoms of a condition or their symptoms are less severe.
- Carrier (of disease-causing mutation)A person who has one copy of a recessive pathogenic variant and one copy of the corresponding normal variant. The potentially harmful variant can be passed on to offspring, but the "carrier" is not af
- CecostomyA non-latex tube or catheter placed in the first part of the large intestine (cecum). If your child has a constant problem with constipation or the soiling of their pants could be why the C-tube is su
- Cecostomy Tube surgeryThe insertion of an artificial tube from the skin of the abdomen through to the cecum which is the entrance to the large intestines. A couple of weeks after the procedure the surgeon places either a C
- Cecostomy Tube surgery
- Cellular ViabilityA measure of the proportion of healthy cells in a population.
- Central LineIt is similar to a regular intravenous (IV) line but this is much longer. It goes all the way up to a vein near or just inside the heart.
- Central Line (Central venous catheterIt is similar to a regular intravenous (IV) line but this is much longer. It goes all the way up to a vein near or just inside the heart.
- Ceramide levelsComplex lipids that play a central role in cell membrane integrity, the cellular stress response, inflammatory signaling and apoptosis.
- Ceramide levels
- Cerebrospinal fluidCSF
- Cerebrospinal fluid
- Cerebrospinal fluid (CSF)The fluid surrounding the brain and spinal cord, inside the tough membrane called the dura mater.
- CeruloplasminA protein made in the liver that stores and carries the mineral copper throughout the body.
- Ceruloplasmin
- Charcot-Marie Tooth DiseaseCMTD
- Charcot-Marie Tooth Disease
- Charcot-Marie Tooth Disease (CMTD)A group of inherited disorders that cause nerve damage. the damage occurs mainly in the arms and legs. The disease results in smaller, weaker muscles with loses in sensations, muscle contractions, and
- Chiari MalformationAn abnormality of the skull which results in part of the brain extending into the spinal canal, causing a variable array of symptoms, some severe. It has been linked to mitochondrial dysfunction.
- CholineA small organic molecule similar to an amino acid, and an essential nutrient with many functions. Among these are: Precursor for cell components including the neurotransmitter acetylcholine. Necessary
- ChoreaA movement disorder that causes sudden, unintended, and uncontrollable jerky movements of the limbs and facial muscles. The immediate cause is overactivity of the chemical dopamine in the areas of the
- Chorionic villiA specific part of the placenta, or organ connecting a baby to their mother during pregnancy.
- Chorionic villi
- ChorioretinopathyA condition in which fluid accumulates under the retina, causing a fluid filled detachment and vision loss. Mitochondria appear to contribute to the disease process.
- ChromosomeA chromosome, as found in the nucleus of animals and other eukaryotes, is a thread-like structureconsisting of a long single strand of DNA that is coated with proteins, mainly of the kind called histo
- Chromosome
- Chronic Intestinal Pseudo-ObstructionRare disorder of gastrointestinal motility where coordinated contraction in the intestinal tract become altered and inefficient. When this happens nutritional requirements cannot be adequately met.
- Chronic Intestinal Pseudo-Obstruction; sometimes included under intestinal dysmotility.Impairment of the muscle contractions that move food through the digestive tract, leading to buildup of partially digested food in the intestines despite the absence of a physical blockage. Associated
- Chronic MolluscumA viral skin infection that causes one or more raised, pearl- like bumps with indentations in the center.
- Chronic Pulmonary AspirationThe repeated passage of food material, gastric reflux, and/or salvia in the subglottic airways that causes chronic or recurrent respiratory symptoms.
- Chronic Pulmonary Aspiration
- Chronic SIBOExcessive bacteria in the small intestine. SIBO is frequently implicated as the cause of chronic diarrhea and malabsorption.
- Chronic Variable Immune DeficiencyCVID
- Chronic Variable Immune Deficiency
- Chronic Variable Immune Deficiency (CVID)An immune system impairing disorder. Patients with this disorder are highly susceptible to recurrent infections; especially in the lungs, sinuses and ears.
- ClonidineDrug that lowers blood pressure and heart rate by relaxing the walls of arteries. It is used to treat high blood pressure as well as other conditions including ADHD, Tourette's Syndrome and Restless L
- Cluster HeadachesThey occur in cyclic patterns patterns or cluster periods. They are one of the most painful types of headaches. That commonly wake you up in the middle of the night; with intense pain in or around one
- Cochlear ImplantsElectronic device that partially restores hearing. It is helpful for those who have hearing loss from inner-ear damage and those who are no longer helped by hearing aids.
- CoenzymeA relatively small organic (i.e., carbon-containing) molecule whose presence is required in order for the biological activity of an enzyme to occur. Thus, coenzymes are a particular kind of cofactor.
- Coenzyme Q10A relatively small fat-soluble organic (i.e., carbon-containing) molecule, found in membranes throughout the in the body. It readily transports both electrons and protons. Its many essential functions
- CofactorA substance other than a protein whose presence is required for the biological activity of an enzyme or other protein to occur. For example, many enzymes will only work in the presence of magnesium io
- Coffin Siris SyndromeA genetic condition that uses variable degrees of learning disabilities, developmental delays, underdeveloped "pinky" toenails or fingernails and distant facial features.
- Cognitive declineTerm used to describe trouble with memory, slower thinking skills, loss of awareness and judgment.
- Cognitive decline
- Conduction AbnormalitiesConduction s how electrical impulses travel through the heart, which causes it to beat. Some conduction disorders can cause arrhythmias or irregular heartbeats.
- Conduction Abnormalities
- ContractureNormally stretchy tissues are replaced by non stretchy fiber-like tissue tissue. The tissue makes it harder to stretch the area and therefore preventing normal movement.
- Conversion DisorderAlso called Functional Neurological Disorder, in which neurological symptoms occur, such as paralysis, numbness, blindness, deafness or seizures, without obvious underlying neurologic pathology. The c
- CPAP MachineContinuous Positive Airway Pressure machine. Sends a steady flow of air into the nose and mouth, to keep airways open and breathing normal while you sleep.
- Creatine KinaseAn enzyme found in the heart, brain, skeletal muscle and other tissue. Increased amounts of CK is released into the blood when there is muscle damage.
- Creatine Kinase, CK (formerly called Creatine Phosphokinase, CPK)A set of related enzymes most abundant in the heart, brain, skeletal muscle and other tissues with high energy requirements. CK is critical in maintaining a constant concentration of ATP under conditi
- Creatine phosphokinase testCreatine phosphokinase is an enzyme found in the heart, brain, and skeletal muscles in the body. it is performed when the heart, brain, or muscle is damaged. This enzyme leaks into the bloodstream and
- CroenA prescription medication used to treat people who cannot digest food normally because their pancreas does not make enough enzymes.
- Crohn's Disease
- Crohn's Disease
- CromolynIt is used to treat symptoms of mastocytosis. The product is available as a solution.
- CyanocobalaminAids in red blood cell growth and proliferation.
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- De Novo mutationA mutation that is present for the first time in one family member as the result of a mutation in a germ cell of one of the parents or a variant that arises in the fertilized egg itself during early e
- DementiaLoss of cognitive functioning — thinking, remembering, and reasoning — to the extent that it interferes with a person's daily life
- Dementia
- DepressionIt is a mood disorder that causes a persistent feeling of sadness and loss of interest.
- DEXA scanA type of medical imaging test that uses very low levels of x-rays to measure how dense your bones are.
- DextroseEquivalent to glucose. Glucose, the most common sugar and the main source of energy in our bodies, can exist in two forms, D and L. These have identical chemical properties but whose physical structur
- DHA supplementAn Omega -3 supplement that is linked to improved heart health, better vision, and reduced inflammatory response.
- DichloroacetateInvestigational drug for treatment of mitochondrial disease. A small inorganic molecule that increases the rate of oxidative phosphorylation, the main pathway by which the energy in food is converted
- DietitianRegistered dietitian
- Dietitian
- Dietitian, Registered DietitianA licensed healthcare provider who specializes in nutrition and its effect on health.
- DNA methylationThis process often inhibits the expression of certain genes.
- Docosahexaenoic AcidAn Omega -3 fatty acid found in cold water, fatty fish.
- Docosahexaenoic Acid (DHA)An Omega -3 fatty acid found in cold water, fatty fish.
- DominantA gene from either parent which can express a disease.
- Dominant
- DopamineA neurotransmitter in the brain, acting as a chemical messenger between neurons. it is released when your brain is expecting a reward.
- Dravet SyndromeAn epilepsy syndrome, that begins in infancy or early childhood and can include a spectrum of symptoms ranging from mild to severe
- Dravet Syndrome (myoclonic seizure of infancy)An epilepsy syndrome, that begins in infancy or early childhood and can include a spectrum of symptoms ranging from mild to severe
- DRESSAn allergic reaction to medication. This reaction is characterization by fever, rash, abnormal blood tests and swollen lymph nodes.
- DronabinolA man made compound that contains cannabinoids found in the marijuana plant.
- Duchenne Muscular DystrophyA genetic disorder characterized by progressive muscle degeneration and weakness due to alterations of a protein called dystrophin that keeps muscle cells intact.
- Duchenne Muscular Dystrophy (DMD)A genetic disorder characterized by progressive muscle degeneration and weakness due to alterations of a protein called dystrophin that keeps muscle cells intact.
- DupixentAn injectable used to treat a number of inflammatory conditions. it works to inhibit the inflammatory response by binding to a protein that causes inflammation.
- DysarthriaA motor speech disorder in which the muscles that are used to produce speech are damaged, paralyzed, or weakened. Patients with this condition cannot control their tongue or voice and may slur their w
- Dysarthria
- Dysexecutive SyndromeA dysregulation of executive functions that is strictly associated with frontal lobe damage. It encompasses emotional, motivational, and behavioral symptoms, as well as cognitive deficits.
- DysphagiaThe medical term for difficulty in swallowing. Dysphagia is associated with several types of mitochondrial disease.
- DystoniaA complex movement disorder in which the muscles contract involuntarily, often causing repetitive or twisting movements. There many different kinds and causes. Most originate in a deep part of the bra
- Dystonia
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- Ehlers-Danlos SyndromeIt is an inherited condition that affects the connective tissue of the body. Connective tissues are responsible for structuring and supporting the skin, blood vessels, bones and organs. Connective tis
- Ehlers-Danlos Syndrome, EDSIt is an inherited condition that affects the connective tissue of the body. Connective tissues are responsible for structuring and supporting the skin, blood vessels, bones and organs. Connective tis
- ElectroencephalogramA test that detects in your brain using electrodes on your scalp.
- Electroencephalogram (EEG)A test that detects in your brain using electrodes on your scalp.
- ElectromyographyA diagnostic procedure to assess the health of muscle and nerve cells that control each.
- Electromyography (EMG)A diagnostic procedure to assess the health of muscle and nerve cells that control each.
- ElectroretinogramA diagnostic test that measures the electrical activity of the retina in response to a light stimulus.
- Elevated Liver EnzymesWhen liver enzymes are elevated in the bloodstream it is a sign that the enzymes in the liver are inflamed or injured. Common symptoms of having elevated liver enzymes are pain or swelling in the abdo
- Emergency protocol letterA letter written and signed by a doctor that explains what to do during an emergency for a specific patient.
- Emergency protocol letter
- EndocrinologyMedical specialty focused on disrders of the the endocrine system, which consists of multiple glands that secrete hormones, chemical messengers that regulate the function of all body organs including
- EndoscopyThe insertion of a long, thin tube directly into the body to observe an internal organ or tissue in detail. It can be inserted into openings of the body such as the mouth or anus.
- Eosinophilic EsophagitisA chronic immune system disease in which a type of white blood cells builds up in the lining of the tube that connects your mouth the stomach.
- Epidermolysis BullosaA group of rare diseases that cause fragile, blistering skin.
- Epidermolysis Bullosa
- EpileptologistA neurologist that specializes in the treatment of seizures and epilepsy.
- Epileptologist
- ErythromelalgiaA rare condition that primarily affects the feet and less commonly the hands. It is characterized by intense burning pain, severe redness, and increased skin temperature. The symptoms may be episodic
- EsophagitisInflammation of tissue that may damage the esophagus. Which is the muscular tube that delivers food from your mouth to your stomach.
- Ester C with bioflavonoidsA form of vitamin C that is better absorbed.
- Everolimusused to treat advanced late stage cancer or noncancerous tumors, a brain tumor, kidney tumor, epilepsy with tuberous sclerosis complex and neuroendocrine tumors of the pancreas stomach or bowels and l
- Exocrine pancreatic InsufficiencyIt occurs when your pancreas doesn't produce enough digestive enzymes.
- Exocrine pancreatic Insufficiency
- ExophoriaWhen you have exophoria, there's a problem with how your eyes coordinate their movements. It occurs when your eyes tend to drift outward or one eye drifts from the other.
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- Facioscapulohumeral muscular dystrophyA rare genetic muscle disease that affects the muscles of a child's face, shoulders, upper arms and lower legs.
- Facioscapulohumeral muscular dystrophy (FSHDA rare genetic muscle disease that affects the muscles of a child's face, shoulders, upper arms and lower legs.
- FasciotomyA surgery to relieve swelling and pressure in a compartment of the body.
- FatigueThe overall feeling of tiredness or lack of energy. It is not the same as simply feeling drowsy or sleepy. Being fatigued means having no motivation or energy.
- Fatty Acid Oxidation DisordersA group of genetic conditions that affect how the body breaks down fats to make energy.
- Fatty Acid Oxidation Disorders (FAOD)A group of genetic conditions that affect how the body breaks down fats to make energy.
- FerritinA blood protein that contains iron.
- Ferritin Blood testHelps your doctor understand how much iron your body stores.
- FerroptosisA form of programmed cell death, that is different from apoptosis. Driven by the iron-dependent oxidative degradation of lipids.
- FibromyalgiaA disorder characterized by widespread musculoskeletal pain accompanied by fatigue, sleep, memory and mood issues.
- FibrosisThe thickening and scarring of connective tissue.
- First Degree AV BlockA condition of abnormally slow conduction of the Atrioventricular node.
- Flaxseeda rich source of essential fatty acid alpha-linolenic, a heart healthy omega 3 fatty acid.
- FluoroquinoloneA class of antibiotics that are highly effective at killing bacteria by preventing bacterial DNA replication, but are also capable of seriously harming mitochondria, which have DNA replication similar
- Folinic AcidReduced form of folic acid (vitamin B9).
- Folinic Acid (Leucovorin)Reduced form of folic acid (vitamin B9).
- Free RadicalsUnstable, highly-reactive atoms or molecules, generated in living organisms by metabolic reactions, mainly in the mitochodrion. These can damage DNA, proteins and other molecules, in the mitochondria
- Friedreich's Ataxia
- Friedreich's Ataxia
- Functional Neurological DisorderPresence of neurological symptoms in the absence of any supporting physical evidence, which cannot be explained by any known neurological or other disease. The term is often used in dismissing a patie
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- GabapentinIt is used to help control partial seizures (convulsions) in the treatment of epilepsy.
- Gastric Emptying StudyA test to determine the time it takes a meal to m0ve through a person's stomach.
- GastroenterologyA branch of medicine focusing on organs that break down food like the stomach and intestines.
- Gastroesophageal Reflux diseaseGERD
- Gastroesophageal Reflux disease
- Gastroesophageal Reflux disease (GERD)A digestive disorder that affects the ring of muscle between your esophagus and your stomach. If you have it, you may get heartburn or acid digestion.
- GastrointestinalGI
- Gastrointestinal
- Gastrointestinal (GI)Problems in the stomach or intestines.
- Gastroparesis/Delayed Gastric EmptyingA condition that affects the normal spontaneous movement of the muscles in the stomach.
- Gastroparesis/Delayed Gastric Emptying
- GenitourinaryRelating to the genital and urinary organs.
- Gilbert's Syndrome
- GlaucomaA group of eye conditions that damage the optic nerve. It is caused by an abnormally high pressure in the eye.
- Glosis of the brainThis occurs when the body creates more or larger glial cells. Which are cells that support nerve cells. new glial cells can cause scars on your brain therefore there is an impact on the way that the b
- Growth RetardationWhen the fetus does not develop at a normal rate.
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- Hashimoto's thyroiditis
- Health PlanA procedure that the school follows to maintain the child's health when in their care.
- Hearing AidsA small device that fits in or on the ear, worn by a partially deaf person to amplify sound.
- HELLP SyndromeA life threatening pregnancy complication usually considered to be a variant of preeclampsia. HELLP stands for Hemolysis (which is the breaking down of red blood cells), Elevated liver enzymes and a l
- HematologyA branch of medicine focusing on the blood and its disorders.
- HemeHeme naturally occurs in the protein hemoglobin in an animal's blood or myoglobin in the muscle.
- Hemodynamic instabilityInadequate blood flow to the organs, usually occurring with dangerously low blood pressure.
- HepatologistsMedical doctors that diagnose, treat and manage problems that associated with the liver, gallbladder, bile ducts and pancreas.
- HepatologyA medical discipline focused on diagnosis, treatment and management of problems in the liver, gallbladder, bile ducts and pancreas.
- Hepatorenal SyndromeA serious complication of cirrhosis of the liver. Marked by degeneration of cells, inflammation, and fibrous thickening of the liver tissue, with a critically poor diagnosis. The medical hallmark is s
- Hepatorenal Syndrome
- HeteroplasmyApplies to variants in mitochondrial DNA. Homoplasmy is the presence of only one variant, in a given mitochondrial gene, in an individual. Heteroplasmy is the presence in an individual of two more var
- Heteroplasmy
- HIDA scanAn imaging procedure used to diagnose problems of the liver, gallbladder, and bile ducts. For the procedure a radioactive tracer is injected into a vein in your arm. The tracer travels into your blood
- HistoneA protein that provides structural support to a chromosome. In order for a very long DNA molecule to fit into the cell nucleus, they wrap around complexes of histone proteins.
- HMB metabolite of leucineIt reduces the muscle protein breakdown. It appears to have an anti catabolic role for muscle but is not as effective as it parent amino acid for inducing muscle protein synthesis.
- HMG-CoA reductase inhibitorA substance that blocks an enzyme needed by the body to make cholesterol and lowers the amount of cholesterol in the blood.
- HMG-CoA reductase inhibitor
- Hoffman SyndromeA specific rare form of hypothyroid myopathy, which causes proximal weakness and pseudohypertrophy of the muscles.
- Holter MonitorA type of portable electrocardiogram that records the electrical activity of the heart. it does this continuously over 24 hours or longer. In order to measure a normal or "resting" heart rate and over
- HomocysteineAn amino acid produced when proteins are broken down. Having a high homocysteine level can contribute to arterial damage and blood clots in its vessels. Increased levels can also indicate a deficiency
- HyperammonemiaA dangerous metabolic disturbance characterized by an excess of ammonia in the blood.
- HyperintensityAn area of high intensity on types of MRI scans of the brain of the brain of a human that reflects lesions produced largely by demyelination or axonal loss. (Demyelination slows down messages sent alo
- HypoglycemiaLow blood sugar.
- Hypoglycemia
- HypoparathyroidismWhen 1 or more of your parathyroid glands is not active enough. They are not making enough parathyroid hormone therefore lowering the level of calcium in the blood.
- HypotonyLow intraocular pressure can adversely impact eyes.
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- IdebenonaA man made supplement similar to to coenzyme Q-10. It has an antioxidant reaction that appears to protect a wide variety of cells from oxidative change.
- IEPThe skills that need to be taught by an educator or related services professional so that the child's educational needs are met.
- IEP Extended School YearThe services of ESY are provided when school's typically not in session. The services are individualized to help each student maintain their skills over break.
- IEP, 504The skills that need to be taught by an educator or related services professional so that the child's educational needs are met.
- Immunoglobulin IgAAntibodies produced to protect body surfaces that are exposed to foreign substances. Found in the nose, eyes, ears, respiratory and digestive tracts, vagina, saliva and tears
- Immunoglobulin IgDAn antibody isotype is usually co-expressed with another cell surface antibody called IgM.
- Immunoglobulin IgEThese antibodies are found in the lungs, skin and mucous membranes. They react to foreign substances like animal dander and pollen.
- Immunoglobulin IgGThe smallest but most common antibodies. They are found in all body fluids and they are important in fighting viruses and bacteria.
- Immunoglobulin IgMThe largest antibodies and the first to respond to infections.
- Implantable cardiac defibrillatorsICD
- Implantable cardiac defibrillators
- Implantable cardiac defibrillators (ICD)A small battery-powered device placed in the chest to detect and stop irregular heartbeats (arrhythmias).
- Inclusion body myositisA rare condition that causes muscle weakness and damage.
- InheritanceThe way a genetic condition is passed down in a family.
- Inheritance
- Inherited conditionA condition that is passed down in families through DNA
- Inherited condition
- Interstitial CystitisA chronic bladder condition resulting in recurring discomfort or pain in the bladder. People with IC usually have inflamed or irritated bladder walls which can cause scarring and stiffening of the bla
- Interstitial Cystitis
- Intravenous ImmunoglobulinIt is a therapy treatment for patients with antibody deficiencies. it is prepared from immunoglobulin (antibodies) from the plasma of healthy donors.
- Intravenous Immunoglobulin (IVIG)It is a therapy treatment for patients with antibody deficiencies. it is prepared from immunoglobulin (antibodies) from the plasma of healthy donors.
- Irritable Bowel SyndromeIBS
- Irritable Bowel Syndrome
- Irritable Bowel Syndrome (IBS)A difficult- to- define/diagnose disorder characterized by abdominal pain and altered bowel habit (diarrhea, constipation, or both, either mixed or in alternation). Relatively common - perhaps 5-10% o
- Ischemic Exercise testA clinical tool for evaluation for patients with a suspected metabolic disorder for muscle function. A confirmation of glycolytic metabolism is a failure in elevation of lactate in the blood from exer
- Ischemic Exercise test
- IsoleucineAn essential amino acid. It is used in the biosynthesis of proteins. It may help in how hemoglobin is made and how oxygen is carried through the body.
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- KeppraAn anticonvulsant.
- KetonesBy-products formed when the body breaks down fat for energy. The ketones can accumulate in the blood and an excessive amount of ketones is called ketosis.
- Klebsiella pneumoniaeA bacterium that normally lives inside the human intestines. If it gets into other parts of the body it can lead to pneumonia, bloodstream infections, meningitis and urinary tract infections.
- KyphoscoliosisAn abnormal curve of the spine on the coronal and the sagittal planes. it is a combination of two abnormal spine conditions; scoliosis and kyphosis.
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- L-arginineAn amino acid that helps to build protein in the body.
- L-carnitine (Levocarnitine)A small molecule, derived from amino acids, that helps transports long-chain fatty acids into the mitochondrion where they can be oxidized to produce chemical energy. Its other functions include remov
- L-MethylfolateA folic acid supplement form that is used to prevent low levels of Folic acid. Low Folic acid levels can lead to certain types of anemia.
- L-Methylfolate
- Laryngeal SpasmsThe frightening experience of vocal cords suddenly seizing or close when taking a breath this blocks airflow into the lungs.
- LaryngomalaciaA congenital softening of the tissue of the larynx above the vocal cords. The laryngeal structure is malformed and floppy causing the tissue to fall over the airway opening and partially block it.
- Leaky Gut SyndromeThe gut barrier becomes damaged and the intestinal wall becomes permeable. This allows food particles, chemical additives, bad bacteria, viruses, fungi and other substances to leak through the gut bar
- Leber's congenital amaurosis
- Lennox Gastaut Syndromesevere form of epilepsy that is common among epileptic mitochondrial disease patients. Typically becomes apparent during infancy or early childhood, the most-encountered types being atonic, tonic, and
- LeucineOne of the nine essential amino acids. It contributes to growth hormone production, the repair and growth of muscles and tissue, aids in blood sugar regulation and wound healing.
- LevocarnitineHelps transport long-chain fatty acids across mitochondrial inner membrane.
- Liver CirrhosisChronic liver damage leading scarring and failure from permanent damage. Scar tissue replaces your healthy liver tissue.
- Loop recorderAn implanted heart recording device that is placed underneath the chest skin. The most common use includes looking for causes of fainting, palpitations, very fast or slow heartbeats and hidden rhythms
- Loose Anagen SyndromeA hair disorder in which the hair is 'loose' and can be painlessly pulled from the scalp. Essentially the hair is not properly anchored, there is no known cause for this disorder.
- Loose Anagen Syndrome
- Low homocysteineAKA low levels of glutathiones. If the body has too little it is open to more oxidative damage.
- Low plasma citrullineAn indicator of a proximal urea cycle defect.
- Low plasma taurineMay increase the risk for oxidative damage, impaired fat digestion, cardiovascular disease related problems and seizure disorders.
- Low plasma tyrosineImplicated in depression hypothyroidism and blood pressure disorders. If phenylalanine is normal or high, iron vitamin C and Niacin supplementation may help to convert phenylalanine to tyrosine.
- Low prolineLow proline levels can indicate low protein. it may prevent optimal connective tissue maintenance. Because proline is a major component of collagen.
- Lumbar PunctureThis is a procedure in which a needle is inserted between two lumbar bones to remove a sample of cerebrospinal fluid. This the fluid that surrounds your brain and spinal cord to protect them from inju
- Lumbar Puncture (spinal tap)This is a procedure in which a needle is inserted between two lumbar bones to remove a sample of cerebrospinal fluid. This the fluid that surrounds your brain and spinal cord to protect them from inju
- LupusA disease that occurs when the body's immune system attacks your own tissues and organs. Lupus induced inflammation can affect many different body systems including your joints, skins, blood cells, br
- Lupus (Systemic lupus erythematosus, SLE)A disease that occurs when the body's immune system attacks your own tissues and organs. Lupus induced inflammation can affect many different body systems including your joints, skins, blood cells, br
- LV Diastolic DysfunctionA condition in which the relaxation process of the heart is disturbed as the left ventricle becomes stiffer than normal. Subsequently causing weakening of the heart which can lead to its failure.
- LV Diastolic Dysfunction
- Lysine AcetylationThe transfer of acetyl group from acetyl-coenzyme A to the primary amine in the lysine side of the protein. Which leads to the. neutralization of the position's positive electrostatic charge.
- Lysine MethylationThis modification process changes the binding ability of transcription factors of DNA and regulation of transcriptional activities. The regulatory outcome is related to protein substrates, modificatio
- Lysinuric Protein IntoleranceA genetic condition that is caused by the body's inability to digest the amino acid lysine, arginine, and ornithine these are some of the building blocks of protein.
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- MACE surgeryThe surgeon creates a channel using the appendix or ileum from the beginning of the colon to an artificial opening called a stoma.
- MagnesiumIt is an important mineral that helps with nerve and muscle function, regulating blood pressure, and immune system health.
- Magnetic Resonance spectroscopyA noninvasive diagnostic tests for measuring biochemical changes in the brain, especially the presence of tumors.
- Mast Cell ActivationA condition associated with allergy cells and are responsible for immediate allergic reactions.
- Maximal Expiratory Pressure (MEP)Is also measured by maximal inspiratory effort against a closed system at total lung capacity because expiratory muscle strength is directly related to lung volume.
- Maximal Inspiratory Pressure (MIP)The pressure generated during maximal inspiratory effort against a closed system. To measure MEP you will take a deep breath in, then blow out as hard as you can against a closed mouthpiece.
- MCHCMeasures the concentration of hemoglobin in a red blood cell relative to the size of the cell itself.
- Median Arcuate Ligament Syndrome (MALS)This occurs when the arc-shaped band of tissue in the chest area presses on or traps the artery that supplies blood to the organs in the upper abdomen.
- Medical Arcuate Ligament SyndromeThis occurs when the arc-shaped band of tissue in the chest area presses on or traps the artery that supplies blood to the organs in the upper abdomen.
- MellitusA variable disorder of carbohydrate metabolism and usually characterized by the inadequate secretion or utilization of insulin by excessive urine production, excessive amounts of sugar in the blood an
- MestinonAffect the chemicals in the body that are involved in the communication between nerve impulses and muscle movement.
- Metabolic factorsSubstances or conditions that impact the body's ability to break down food for energy.
- Metabolic factors
- Methylenetetrahydrofolate ReductaseMTHFR
- Methylenetetrahydrofolate Reductase
- Methylenetetrahydrofolate Reductase (MTHFR)An enzyme that breaks down the amino acid homocysteine. The MTHFR gene that codes this enzyme has the potential to mutate. Which can either interfere with the enzyme ability to function normally or co
- Methylmalonic acidA compound that reacts with Vitamin B-12 to produce coenzyme A (CoA).
- Methylsuccinic AcidA normal metabolite found in human fluids and is an intermediate metabolite in the breakdown of fatty acids.
- Mic-Key buttonA low profile tube that allows children to receive nutrition, fluids and medication. directly into the stomach.
- Microarray AnalysisAn interpretation technique that generates data from DNA, RNA and protein microarray which allows researchers to investigate the expression state of a large number of genes or genomes.
- Microarray Analysis
- Miropure UrolithinA highly pure form of Urolithin A, a postbiotic clinically shown to energize cells, increase muscle strength and improve endurance.
- Mito SwabBuccal Swab test to analyze the Mitochondrial Electron Transport Chain Complex (ETC 1 & 5).
- Mito Swab (Buccal Swab)Buccal Swab test to analyze the Mitochondrial Electron Transport Chain Complex (ETC 1 & 5).
- MitochondrialRelated to the mitochondria.
- Mitochondrial DysfunctionThis is when mitochondria do not work as well as they should due to another disease or condition. Many conditions can lead to secondary dysfunction.
- Mitochondrial Dysfunction
- Mitochondrial factorsChanges in a part of the cell called the mitochondria.
- Mitochondrial factors
- Mitochondrial methionyl-tRNA formyltransferaseA protein in humans that is encoded by the MTFMT gene. The encoded protein by the nuclear gene localized to the mitochondrion. That is where it catalyzes the formylation of methionyl-tRNA. Recessive-
- Mitochondrial methionyl-tRNA formyltransferase MTFMT)A protein in humans that is encoded by the MTFMT gene. The encoded protein by the nuclear gene localized to the mitochondrion. That is where it catalyzes the formylation of methionyl-tRNA. Recessive-
- Mitochondrial Neurogastrointestinal EncephalopathyA multisystem disorder characterized by progressive degeneration of the muscles of the gastrointestinal tract. Causing gastrointestinal dysmotility, weakening of extraocular muscles causing drooping o
- MNGIE, Mitochondrial Neurogastrointestinal EncephalopathyA multisystem disorder characterized by progressive degeneration of the muscles of the gastrointestinal tract. Causing gastrointestinal dysmotility, weakening of extraocular muscles causing drooping o
- MotegrityA prescription medicine used in adults to treat a type of constipation called chronic idiopathic constipation.
- MottlesThis occurs when the heart is no longer able to pump blood effectively. The blood pressure slowly drops and blood flow through the body slows. This causes the extremities to begin to feel cold to the
- mtDNA Deletion SyndromeMitochondrial DNA deletion syndromes are caused by deletions of the mitochondrial DNA.
- Multifactorial causesCaused by many things.
- Multifactorial causes
- Multiple Acyl-CoA Dehydrogenase DeficiencyThis condition reduces the body's ability to obtain energy from protein and fats. Due to defect in the electron transfer flavoprotein or electron transfer flavoprotein dehydrogenase.
- Mutation (genetic variant, genetic change)A change in the sequence of base pairs in the genetic material (DNA)
- Mutationsgenetic variant, genetic change
- Mutations
- MyalgiaStrictly speaking, pain in the muscles. Often broadened to include ligaments and tendons, the soft tissue that connects muscles to bones and other body parts.
- Myalgic encephalomyelitischronic fatigue syndrome, ME/CFS
- Myalgic encephalomyelitis
- Myalgic encephalomyelitis (Chronic Fatigue Syndrome, ME/CFS)A condition characterized by overwhelming fatigue that is not improved by rest.
- MyocarditisThe inflammation of the heart muscle. It is caused by the body's immune system in response to a trigger like an infection.
- MyoglobinuriaA breakdown of muscle after exercise or muscle injury. That causes leakage of a protein called myoglobin from the muscles into the urine. This occurrence stresses the kidney's ability to filter waste
- Myotonic Dystrophy Type 1A genetic disorder that causes progressive muscle weakness affecting all of the bodies organs and muscles.
- Myotonic Dystrophy Type 1
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- N-AcetylcysteineInhaled for cystic fibrosis patients to break up mucus, it is also injected for tylenol overdose. Supplement taken for kidney disease for damaged tissue.
- NabiloneA synthetic cannabinoid with therapeutic use as an anti- nausea and vomiting and adjunct analgesic for neurological pain.
- Nabilone, CesametA synthetic cannabinoid with therapeutic use as an anti- nausea and vomiting and adjunct analgesic for neurological pain.
- Nasogastric tubeNG tube
- Nasogastric tube
- Nasogastric tube (NG tube)A flexible tube of rubber of plastic that is passed through the nose, down through the esophagus and into the stomach.
- Natural History StudyA type of medical research study in which researchers examine how a disease or medical condition develops over time.
- Needle BiopsyA procedure to obtain a sample of cells from your body for laboratory testing. Needle biopsy may be used to take tissue of fluid samples from muscles, bones, and other organs such a the lover or lungs
- NephrologyThe medical specialty focusing on the kidneys.
- NeurologyMedical specialty focusing on disorders of the nervous system.
- NeutropeniaAn abnormally low number of neutrophils, an abundant type of white blood cell that constitutes the first line of defense against microbes that enter the body. It is characteristic of some forms of mit
- Newborn screening panelsNBS, newborn screening
- Newborn screening panels
- Newborn screening panels (NBS, newborn screening)Screening done during the first 48-72 hours of life that look for certain treatable genetic conditions.
- NiacinSupplement that aids in its deficiency that leads to slow metabolism and an intolerance to the cold. It is made and used by your body to turn food into energy.
- Nonspecific symptomsSomething that doesn't point to one specific cause.
- Nonspecific symptoms
- NorcoA combination of acetaminophen and hydrocodone.
- Nutcracker SyndromeA rare vein compression disorder that occurs when arteries, most often the abdominal aorta and superior mesenteric artery, squeezes the left renal (kidney) vein.
- NutritionistSomeone who gives advice related to nutrition. Depending on the state, nutritionists may or may not be licensed healthcare providers and the level of training needed to be called a nutritionist varies
- NystagmusA vision condition in which the eye makes repetitive uncontrolled movements. These movements often result in reduced vision and depth perception and affect balance and coordination.
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- Occupational therapyTreatments aimed at helping someone complete certain daily tasks of daily living
- Occupational therapy (OT)Treatments aimed at helping someone complete certain daily tasks of daily living
- OphthalmologyThe branch of medicine focusing on the eye. Ophthalmologists are MDs qualified to diagnose all forms of eye diseases and perform surgery and other procedures on the eye.
- OphthalmoplegiaParalysis or weakness of the eye muscles. A common symptom in some kinds of mitochondria disease
- Optic NeuritisSwelling that damages the optic nerve. This damage causes pain with eye movement and temporary vision loss in one eye.
- OptometristHealth provider with doctoral degree (Doctor of Optometry). An optometrist can diagnose many eye diseases and vision problems, and prescribe many of the most common treatments, including corrective le
- Organic AcademiaA term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, like branched-chain amino acids, causing a build up of acids that are not usually present.
- Organic AcidemiaA term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, like branched-chain amino acids, causing a build up of acids that are not usually present.
- Ornithine Transcarbamylase DeficiencyOTD
- Ornithine Transcarbamylase Deficiency
- Ornithine Transcarbamylase Deficiency (OTD)A rare X-linked genetic disorder characterized by a complete or partial lack of the enzyme Ornithine Transcarbamylase. It is one of the six enzymes that break down and remove nitrogen in the body.
- Oromandibular dystoniaA movement disorder characterized by involuntary, paroxysmal and patterned muscle contractions of varying severity resulting in sustained spasms of masticatory muscles affecting the jaw, tongue, face
- OtitisInflammation or infection of the inner ear (behind the eardrum)
- OzempicA medication that acts as a GLP-1 receptor agonist that selectively binds to and activates the GLP-1 receptor. The medication lowers fasting and post diner or lunch blood glucose by stimulating insuli
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- Pancreatitis attackA sudden attack that results in an inflamed pancreas. It is usually associated with severe upper abdominal pain. Other symptoms include nausea, vomiting, diarrhea, bloating and fever.
- PANDASOccurs when strep triggers a misdirected immune response. Which results in the inflammation of a child's brain. In which the child quickly exhibits life changing symptoms such as OCD, anxiety, tics, p
- PANDAS (Pediatric Autoimmune Neuropsychiatric Disorders with Streptococcal Infections)Occurs when strep triggers a misdirected immune response. Which results in the inflammation of a child's brain. In which the child quickly exhibits life changing symptoms such as OCD, anxiety, tics, p
- PantothenicAlso called vitamin B which is essential to the synthesization of Coenzyme A. Which is essential to metabolize fatty acid and synthesize and metabolize proteins, carbohydrates and fats.
- Pantothenic
- Papillary dysfunction and ampullary stenosisThese are disorders centered at the ampulla of Vater that can cause symptoms of intermittent biliary obstruction.
- PathogenicCausing disease. Often used in reference to harmful DNA mutations.
- PCSK9 inhibitorsThe inhibitors can help treat high cholesterol by directly modifying the PCSK9 gene to reduce the amount of bad cholesterol in your body.
- Pearson SyndromeA rare disease that targets the bone marrow and pancreas. Through dysfunction of cells in the bone marrow that produce white and red bloods cells along with platelets.
- Pectus ExcavatumA condition in which a person's breastbone is sunken into his or her chest. A severe case of this condition can eventally interfere with the function of the heart and lungs.
- Peripherally Inserted Central Catheter (PICC)A long thin tube entering the body through the arm or leg and opening internally near the big vein next to the heart. Used to deliver liquid nutrition, chemotherapy, antibiotics, etc.
- Physical therapyTreatments aimed at helping someone improve the ability to move parts of their body.
- Physical therapy (PT)Treatments aimed at helping someone improve the ability to move parts of their body.
- PlaceboAn inactive substance or treatment that looks the same as, and is given in the same way as, an active drug or intervention/treatment being studied.
- Placebo-controlled studyA way of testing a medical therapy, In which a group of subjects receives an actual treatment. While the other group receives a sham or fake medical treatment.
- PolymorphismVariations in the DNA that we all have aren't disease causing.
- PolymyositisAn uncommon inflammatory disease that causes muscle weakness affecting both sides of your body.
- Polymyositis
- PolyneuropathyThis condition affects several nerves in different parts of the body at the same time. The neuropathy can affect the nerves responsible for feeling, movement, or both. The neuropathy can also limit or
- Polyneuropathy
- Pompe DiseaseThe disease happens when your body can't make a protein that breaks down a complex sugar called glycogen for energy.
- PortA device for delivering liquid nutrition or treatments into the circulatory system, consisting of a small receiving chamber implanted under skin of the chest, connected to a narrow tube that empties i
- PotassiumA mineral and electrolyte that helps your muscles work.
- POTSIt is a form of orthostatic intolerance. Symptoms of the condition occur upon standing up from a reclining position. The primary symptom of the intolerance is lightheadedness, fainting and an uncomfor
- POTS (Positional Orthostatic Tachycardia Syndrome)A form of dysautonomia and . orm of orthostatic intolerance. Symptoms of the condition occur upon standing up from a reclining position. The primary symptom of the intolerance is lightheadedness, fain
- PrealbuminA protein made in the liver that helps to carry thyroid hormones and Vitamin A through the bloodstream. It also helps regulate how your body uses energy. If your prealbumin levels are lower than norma
- Preventricular contractionPVC
- Preventricular contraction
- Preventricular contraction (PVC)Extra heartbeats that begin in one of the heart's two lower pumping chambers (ventricles).
- Prion diseasesProteins that can fold incorrectly and cause damage to the brain.
- prion-like moleculesProteins that can fold incorrectly and cause damage to the brain.
- Progress ReportsQuarterly updates on how the child is progressing in targeted goals listed with the special education plan. A school, family or guardian can request a meeting at anytime but, school plans are revisite
- Progressive Supranuclear PalsyUncommon brain disorder that causes serious problems with walking, balance and eye movements and later with swallowing. The disorder results from the deterioration of cells in areas of the brain that
- Prophylactic implantable cardiovascular defibrillatorIt treats potentially lethal cardiac arrhythmias in patients who have not previously experienced such but are at a considerable risk due to an underlying heart disease.
- Prophylactic implantable cardiovascular defibrillator (ICD)It treats potentially lethal cardiac arrhythmias in patients who have not previously experienced such but are at a considerable risk due to an underlying heart disease.
- ProprioceptionDifficulty having perception or awareness of the position and movement of the body.
- Proprioception (Kinesthesia)The body's ability to sense its location, movements, and actions without the need for conscious thought. It is based continuous reporting from countless sensory receptors throughout the muscles, tendo
- Protein microarrayA high throughput method to measure how proteins interact and function.
- Protein substratesA substrate is a molecule upon which an enzyme acts. Enzyme catalyze chemical reactions involving the substrate. In a protein substrate reaction the substrate is a milk protein and the enzyme is renni
- Protein substrates
- Pryruvate (Pyruvic acid)Product of the first step in the production of chemical energy from glucose (glycolysis). Enters the mitochondrion for further energy extraction via oxidative phosphorylation. A high ratio of lactate
- PtosisDrooping of the upper eyelid to some degree over the eye, in one or both eyes. A common symptom of mitochondrial disease.
- Pulse OxPulse oximeter: A device used to measure arterial blood oxygenation.
- Pulse Ox
- Pulse Oximeter (Pulse Ox)A device clipped onto a finger, toe, ear, etc., that shines a light beam through the body part and uses the amount of light emerging to determine the percent oxygen saturation of your blood. If you ha
- PyridoxineA supplement helps with neuropathy and is a component of neurotransmitter synthesis.
- Pyruvate levelsThe output of the metabolism of glucose known as glycolysis.
- Pyruvate levels
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- RapamycinAn organic compound produced by a species of soil bacteria, belonging to a class of compounds originally described as antibiotics. Later discovered to have potent antitumor and immunosuppressive activ
- ReglanA medication used to treat certain conditions of the stomach and intestines. It is used to treat ongoing heartburn when the other medications do not work.
- Renal Tubular AcidosisThis disease occurs when the kidneys are damaged and cannot remove waste, called acid, from the blood.
- Renal Tubular Acidosis (RTA)This disease occurs when the kidneys are damaged and cannot remove waste, called acid, from the blood.
- Retinitis PigmentosaThe breakdown and loss of cells in the retina. Resulting in difficulty seeing at night and the loss of side vision.
- Retinitis Pigmentosa (RP)A group of rare genetic diseases in which the cells of the retina break down slowly over time, causing loss of vision. Typically starts in childhood, often progresses to complete blindness. Many diffe
- Rett SyndromeRare genetic neurological disorder that occurs almost exclusively in girls and leads to severe impairments affecting nearly every aspect of the child's life. Like the ability to speak, walk, eat or ev
- RhabdomyolysisBreakdown of muscle tissue, releasing muscle fiber contents into the blood, with complex and potentially fatal consequences. Muscle contents are harmful to the kidney; rarely, permanent muscle damage
- RiboflavinIt is a type of vitamin B. It helps in red blood cell production and aids in the release of energy from proteins.
- RiboseA simple sugar produced by the body that serves as a building block forms part of DNA and
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- SclerodermaA group of rare diseases that involve the hardening and tightening of the skin and connective tissues.
- Scleroderma
- SeizuresEpisodes of abnormal electrical activity in the brain.
- Seizures
- SepsisA potentially life threatening condition that occurs when the body's own extreme immune response to an infection or injury damages its own tissues. Also called blood poisoning or septicemia. Patients
- Septic ShockA infection that was born from sepsis that that worsens to potentially causes single or multiple organ failure.
- SerousResembling serum; filled with serum
- SerumClear liquid part of blood, with blood cells and clotting proteins removed.
- Shone's Complex
- SIBO (Small intestinal bacterial overgrowth)Excessive bacteria in the small intestine. SIBO is frequently implicated as the cause of chronic diarrhea and malabsorption.
- Sjogren's Syndrome
- Sleep terrorsSleep terrors are characterized by episodes of screaming, intense fear, and failing while sleeping. Sleep terrors are considered a parasomnia - an undesired occurrence while sleep.
- SpasticityAbnormal muscle stiffness or muscle tone which can cause problems with movement and speech
- Spasticity
- SpecialistA doctor that focuses on one branch of medicine.
- SteatosisFatty liver disease, resulting from accumulation of fat in the liver. The two main kinds are Nonalcoholic fatty liver disease (NAFLD) and alcohol related fatty liver disease (ALD). Mitochondrial dysfu
- SteroidsThe man-made version of hormones that are naturally made in the body. That are designed to act like hormones to reduce inflammation.
- Steroids (prednisone)The man-made version of hormones that are naturally made in the body. That are designed to act like hormones to reduce inflammation.
- StrabismusCondition in which both eyes do not align simultaneously when looking at the same thing.
- StridorThe output of the metabolism of glucose known as glycolysis.
- Succinic acidA important metabolite that is involved in several chemical process in the body. Succinic acid is a key intermediate or both the Krebs cycle and the electron transport chain that generates ATP.
- Supraventricular tachycardia (SVT)An irregularly fast or erratic heartbeat that affects upper chambers of the heart. During an episode of SVT the heart beats about 150 to 200 times a minute. A typical heart beats about 60 to 10 times
- Symptomatic treatmentTreatment aimed at relieving a symptom rather than fixing the root cause of that symptom.
- Symptomatic treatment
- SyncopeA medical term for fainting or passing out. It is caused by a temporary drop in the amount of blood the flows to the brain.
- SyringomyeliaThe development of a fluid filled cyst within the spinal cord. Overtime the cyst can cause damage to the spinal cord, enlarge and causing pain. weakness and stiffness.
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- TaurineA supplement that is a naturally occurring sulfur containing amino acid. It helps to maintain proper hydration, regulate minerals such as calcium, support the central nervous system and eyes, regulate
- TegretolA medication that is used to treat symptoms of epilepsy, trigeminal neuralgia and bipolar mania.
- ThiamineA critical supplement for carbohydrate metabolism. It is also in nucleic acid as a DNA base to indirectly synthesis.
- ThrombosisWhen a blood clot blocks a vein or artery.
- Thrombosis
- Thymidine Kinase Type 2 DeficiencyIt is an enzyme deficiency defined by muscle weakness, difficulty breathing, and droopy or saggy eyelids.
- Thymidine Kinase Type 2 Deficiency Tk2D)It is an enzyme deficiency defined by muscle weakness, difficulty breathing, and droopy or saggy eyelids.
- Tilt Table TestThis test involves changes a person's position quickly and seeing how their blood pressure and heart rate respond. It involves lying on a table with a blood pressure cuff, electrocardiogram leads and
- Timothy SyndromeA rare multisystem genetic disorder affecting the heart and several other organs including the skeleton, metabolic system and the brain.
- TizanidineMedication to help relax certain muscles.
- TocopherylAn antioxidant in the cellular and organelle membrane.
- TopamaxThe drug that helps to prevent headaches and treat epilepsy in adults and children with partial - onset seizures, generalized tonic-clonic seizures and seizures linked to Lennox-Gastaut Syndrome.
- Topamax (Topiramate)The drug that helps to prevent headaches and treat epilepsy in adults and children with partial - onset seizures, generalized tonic-clonic seizures and seizures linked to Lennox-Gastaut Syndrome.
- Tourette's Syndrome
- TracheomalaciaIt occurs when he cartilage in the windpipe or trachea has not developed properly or was damaged. Instead of being rigid the walls of the trachea are floppy or flaccid. The cartilage cannot keep the w
- Transient (Temporary) Ischemic Attack (TIA)A mini stroke or warning stroke caused by a clot causing a temporary blockage to blood flow in the brain with a quick onset.
- Transient Ischemic AttackA mini stroke or warning stroke caused by a clot causing a temporary blockage to blood flow in the brain with a quick onset.
- Transition PlanningThe formal process for helping kids with Individual Education Plans (IEP) figure out what they want to do after high school and how to get there.
- TroponinProtein found in the muscles of the heart. The protein is released into the bloodstream when the heart muscle is damaged or injured.
- Troponin (Troponin complexA set of proteins which function in contraction of heart and skeletal muscle. Some are found only in heart muscle. These are never found in blood unless there is heart muscle damage, releasing the con
- Troponin LevelsMeasuring your troponin levels can quickly tell your doctors whether your having a heart attack or are in heart failure.
- Tuberous SclerosisThe condition causes non-cancerous (benign) tumours to develop in different parts of the body.The tumours mostly affect the brain, eyes, skin, kidneys, heart and lungs.
- Type 2 Myotonic DystrophyA milder version of DM type 1.
- TyrosineAn amino acid the body makes from another another amino acid called phenylalanine. This is an essential compound for the production of several important brain chemicals called neurotransmitters.
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- Urate stonesUric stones form when the levels of uric acid in the urine are too high and or the urine is too acidic on a regular basis.
- Urea Cycle DisorderA genetic disorder that results in a deficiency of one of the six enzymes in the urea cycle.
- Ureteral obstruction/ clogged kidney tubulesA blockage in one or both of the tubes that carries urines from the kidneys to the bladder.
- Urine Organic AcidsA test that provides a qualitative report of abnormal levels of organic acids which are organic compounds with acidic properties. This is identified via gas chromatography-mass spectrometry.
- UveitisA form of eye inflammation. If affects the middle layer of tissue in the eye wall.
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- ValineA branched chain amino acid. aids in helping to make energy. It is found in protein food sources.
- Variant of Unknown Significance (VUS)A DNA mutation (variant) whose contribution to a genetic disease, if any, is uncertain. There is usually not enough information about a variant of uncertain significance to know whether it increases a
- VariantsSpecific change in the DNA.
- VasculitisInflammation of the blood vessels because of the immune system mistakenly attacking blood vessels. Due to an infection, medication, or another disease.
- VenipunctureThe puncture of a vein as part of a medical procedure typically to withdraw a blood sample or for an intravenous injection.
- Ventricular bigeminyRefers to alternating normal sinus and premature ventricular complexes.
- Ventricular tachycardiaIt is characterized as a fast , abnormal heart rate. That starts in the heart's lower chambers called the ventriculares. VT is defined by 3 or more heartbeats in a row at a rate of more than 100 beats
- Visceral HyperalgesiaHeightened perception of pain in internal organs such as the stomach, pancreas or intestines. Frequently seen in patients with so-called functional gastrointestinal disorders, including those with mit
- Vitamin B1 (Thiamine)A critical B vitamin that supports energy metabolism and nerve function.
- Vitamin B12 (Cobalamin)A B vitamin that plays an essential role in red blood cell formation, cell metabolism, nerve function, and the production of DNA.
- Vitamin B12 (Cyanocobalamin)Aids in red blood cell growth and proliferation.
- Vitamin B2 (Riboflavin)It is a type of vitamin B. It works alongside other B vitamins to support energy metabolism, help red blood cell production, and aid in the release of energy from proteins.
- Vitamin B3, NiacinSupplement that aids in its deficiency that leads to slow metabolism and an intolerance to the cold. It is made and used by your body to turn food into energy.
- Vitamin B5, Pantothenic Acidessential to the synthesization of Coenzyme A. Which is essential to metabolize fatty acid and synthesize and metabolize proteins, carbohydrates and fats.
- Vitamin B6 (Pyridoxine)A B vitamin that assists in amino acid and fatty acid metabolism and red blood cell production. It is essential for normal brain development and keeping the nervous and immune system healthy.
- Vitamin C (Ascorbic acid)A water-soluble vitamin that is needed for growth and repair in all parts of the body. Also serves as an antioxidant.
- Vitamin E, TocopherylAn antioxidant in the cellular and organelle membrane.
- VUS Variant of Unknown SignificanceDNA mutations that has unknown mutations of disease causation.
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- X chromosomeOne of the sex chromosomes. Women typically have two X chromosomes, whereas men typically have one X chromosome and one Y chromosome.
- X-linked dominantWhen a condition is caused by a change in a gene on one copy of the X chromosome and affects both males and females. For X-linked dominant conditions both males and females are affected if they have t
- X-linked dominant (XLD inheritance)When a condition is caused by a change in a gene on one copy of the X chromosome and affects both males and females. For X-linked dominant conditions both males and females are affected if they have t
- X-linked recessiveWhen a condition is caused by a change in a gene on the X chromosome but does not affect males and females the same way. Since men typically only have one X chromosome, X-linked recessive conditions t
- X-linked recessive (XKR inheritance)When a condition is caused by a change in a gene on the X chromosome but does not affect males and females the same way. Since men typically only have one X chromosome, X-linked recessive conditions t
- Abdominal aortic aneurysm
- Abdominal bruit
- Accommodations
- Accommodations for disabilities, school and work
- Addison’s Disease
- Addison’s Disease (Adrenal Insufficiency)
- Adenosine triphosphate (ATP)
- Adenovirus
- Age related Macular Degeneration
- Age related Macular Degeneration (AMD)
- Alpers Disease
- Alpers Disease
- Alpha lipoic acid
- Alpha tocotrienol
- Amniotic fluid
- Amniotic fluid
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis (ALS; Lou Gehrig’s disease)
- Anemia
- Angelman Syndrome
- Anhidrosis
- Ankylosing Spondylitis
- Ankylosing Spondylitis AS)
- Antagonistic pleiotropy
- Antagonistic pleiotropy
- Antibody
- Antigen
- Antinuclear Antibodies
- Antinuclear Antibodies
- Antinuclear Antibodies (ANA)
- Antiproliferative
- Antispasmodic
- Antispasmodics
- Apoptosis
- Apraxia of Speech
- Ascorbic Acid
- Asparagine
- Asparagine
- AST/ALT
- Ataxia
- Audiology
- Autoimmunity
- Autonomic Dysreflexia
- Autosomal dominant
- Autosomal dominant (AD) inheritance
- Autosomal recessive
- Autosomal recessive (AR) inheritance
- B- type Natriuretic peptide
- B- type Natriuretic peptide
- B- type Natriuretic peptide (BNP, NT-ProBNP)
- Baclofen
- BARTH syndrome
- Basal Ganglia
- Basal Ganglia
- Behcet’s Syndrome
- Bicarbonate
- Bicitra
- Bicitra (sodium citrate)
- Bilious Vomit
- Bilirubin
- Biomarker
- BiPAP (Bilevel Positive Airway Pressure) ventilation
- BiPAP Machine
- Blood Gases Test
- Borderline low plasma Alpha Amino Acid Butyric Acid
- Bradycardia
- C-Diff
- C-Diff (Clostridioides difficile)
- c16 Palmitate
- Cachexia
- Cardiac Arrhythmia
- Cardiac Arrhythmia (Irregular heartbeat)
- Cardiology
- Cardiomyopathy
- Cardiomyopathy
- Cardiopulmonary Exercise test
- Cardiopulmonary Exercise test
- Cardiopulmonary Exercise test (CPET)
- Carnitine Palmitoyltransferase Deficiency
- Carnitine Palmitoyltransferase Deficiency
- Carrier
- Carrier (of disease-causing mutation)
- Cecostomy
- Cecostomy Tube surgery
- Cecostomy Tube surgery
- Cellular Viability
- Central Line
- Central Line (Central venous catheter
- Ceramide levels
- Ceramide levels
- Cerebrospinal fluid
- Cerebrospinal fluid
- Cerebrospinal fluid (CSF)
- Ceruloplasmin
- Ceruloplasmin
- Charcot-Marie Tooth Disease
- Charcot-Marie Tooth Disease
- Charcot-Marie Tooth Disease (CMTD)
- Chiari Malformation
- Choline
