Types of FAOD

Acyl-CoA dehydrogenase 9 deficiency, also known as ACAD9 deficiency, is a type of genetic condition categorized as a fatty acid oxidation disorder (also known as an FAOD). The body usually gets its energy by breaking down, or burning, fats and sugars. People with FAODs cannot properly break down certain types of fats. For those with ACAD9 deficiency, an enzyme needed to break down long-chain fats is unable to function properly. This prevents the body from creating needed energy during times of stress, illness, fasting, and exercise, which can lead to medical symptoms.

Genetics

People usually have two copies of the ACAD9 gene, one inherited from each parent. ACAD9 deficiency occurs when there are changes in both copies of the ACAD9 gene (autosomal recessive inheritance). Someone who has a change in only one copy of the ACAD9 gene is called a carrier, and they usually do not have any medical symptoms. If both parents are carriers, there is a 1 in 4 chance with each pregnancy that their child will have ACAD9 deficiency. Both males and females can have ACAD9 deficiency.

Frequency

The exact frequency of ACAD9 deficiency is unknown. Scientific papers have reported at least 70 people with ACAD9 deficiency worldwide.

Signs and Symptoms

ACAD9 deficiency can cause a range of signs and symptoms. Always check with your doctor if your child is doing something out of “their” normal, as every child may present with symptoms a little differently. Signs and symptoms may include:

• Enlarged, weakened heart muscle (hypertrophic cardiomyopathy)
• Liver disease
• Large head (macrocephaly)
• Specific type of neurological condition called Leigh’s syndrome
• Difficulty in suckling
• Loss of head control and motor skills
• Loss of appetite
• Vomiting
• Seizures
• Weakness and lack of muscle tone (hypotonia)
• Extreme muscle tightness (spasticity)
• Movement disorders
• Loss of control in the joints (cerebellar ataxia)
• Loss of nerve function in feet, legs, and fingers (peripheral neuropathy)

Milder cases of ACAD9 deficiency may not be identified until adolescence or adulthood. These individuals can present with nausea and extreme fatigue/tiredness after exercise.

Diagnosis

ACAD9 deficiency can be diagnosed by:

• Measuring biochemical markers in the blood or urine
• Measuring the amount of a fat product called acylcarnitine in the liver
• Performing a genetic test to look for changes in the ACAD9 gene, including whole exome sequencing

ACAD9 deficiency cannot be identified by newborn screening.

If there is a known family history of ACAD9 deficiency, or if parents know they are known carriers, prenatal testing can be performed on amniotic fluid (the fluid surrounding a baby) or chorionic villi (a specific part of the placenta).

Treatment and Management

Before beginning any treatment or therapy, please consult with your physician

Treatment and management of ACAD9 deficiency may include:

• Prevention of low blood sugar (hypoglycemia)
• Monitoring lactic acid to detect a buildup called lactic acidosis
• Possible Vitamin B2 (riboflavin) supplements
• Routine treatment of heart and liver symptoms

Parents should call their health care provider immediately if babies show symptoms like excessive sleepiness, vomiting, diarrhea, a fever, poor appetite, or an infection. Medical treatment should be sought immediately if there is loss of consciousness or severe confusion (decompensation), as these are signs of dangerously low blood sugar.

Patients should discuss the appropriate preparation for anesthesia with their metabolic team. All patients should have an emergency protocol letter, written and signed by their doctor, that details their prescribed treatment during crisis and in emergency room settings, to manage severe episodes.

Clinical Trials

The availability of active clinical trials for ACAD9 deficiency can change over time. For more specific details on clinical trials visit www.mitoaction.org/clinicaltrials or www.clincialtrials.gov

Resources

• The National Institutes of Health: Acyl-CoA dehydrogenase 9 deficiency
• The INFORM Network: ACAD9 Deficiency | Fatty Acid Oxidation Disorders Diagnosis

Connecting with others who are impacted by a rare disease allows for important information to be shared about day-to day life, prevents isolation, and gives hope. Please contact MitoAction for FAOD peer support opportunities at 888-MITO-411 or email mito411@mitoaction.org.

Last updated: 2022-07-22

Carnitine acylcarnitine translocase (CACT) deficiency, also known as CACT deficiency, is a type of genetic condition categorized as a fatty acid oxidation disorder (also known as a FAOD). The body usually gets its energy by breaking down, or burning, fats and sugars. People with FAODs cannot properly break down certain types of fats. For those with CACT deficiency, the enzyme that helps move long-chain fats into the mitochondria to be broken down is unable to function properly. This prevents the body from creating needed energy during times of stress, illness, fasting, and exercise, which can lead to medical symptoms.

Genetics

People usually have two copies of the SLC25A20 gene, one inherited from each parent. CACT deficiency occurs when there are changes in both copies of the SLC25A20 gene (autosomal recessive inheritance). Someone who has a change in only one copy of the SLC25A20 gene is called a carrier, and they usually do not have any medical symptoms. If both parents are carriers, there is a 1 in 4 chance with each pregnancy that their child will have CACT deficiency. Both males and females can have CACT deficiency.

Frequency

The exact frequency of CACT deficiency is unknown, but it is thought to be very rare. Scientific papers have reported less than 60 known cases of CACT deficiency worldwide.

Signs and Symptoms

CACT deficiency can cause a range of signs and symptoms. Whether your child was diagnosed via newborn screening may also affect when, if, and how these symptoms present. Always check with your doctor if your child is doing something out of “their” normal, as every child may present with symptoms a little differently. Signs and symptoms may include:

• Extreme tiredness or fatigue (lethargy)
• Irritability
• Difficulty walking
• High ammonia levels in the blood (hyperammonemia)
• Enlarged liver (hepatomegaly)
• Enlarged, weakened heart (cardiomyopathy)
• Abnormal heart rhythms (arrhythmias)
• Total failure of heart and lung function
• Life threatening low blood sugar with lack of ketones (hypoketotic hypoglycemia)

Milder forms of CACT deficiency may be identified with future research.

Diagnosis

CACT deficiency can be diagnosed by:

• Measuring biochemical markers in the blood or urine (acylcarnitine analysis and organic acid analysis)
• Measuring the amount of CACT activity in the blood or skin cells
• Performing a genetic test to look for changes in the SLC25A20 gene

CACT deficiency can be identified by newborn screening.

If there is a known family history of CACT deficiency, or if parents know they are known carriers, prenatal testing can be performed on amniotic fluid (the fluid surrounding a baby) or chorionic villi (a specific part of the placenta).

Treatment and Management

Before beginning any treatment or therapy, please consult with your physician.

Treatment and management of CACT deficiency may include:

• Regular eating schedules to prevent of low blood sugar (hypoglycemia)
• Possible nutritional supplements like medium-chain triglycerides (MCT oil)
• Possible carnitine supplements (Carnitor) based on protein activity and free carnitine levels
• Continuous feeding directly into the stomach in extreme cases
• Intravenous (IV) sugar-containing fluids called D10 during metabolic crisis
• Dialysis if blood ammonia does not reverse when low blood sugar is corrected

Parents should call their health care provider immediately if babies show symptoms like excessive sleepiness, vomiting, diarrhea, a fever, poor appetite, or an infection. Medical treatment should be sought immediately if there is loss of consciousness or severe confusion (decompensation), as these are signs of dangerously low blood sugar.

Patients should discuss the appropriate preparation for anesthesia with their metabolic team. All patients should have an emergency protocol letter, written and signed by their doctor, that details their prescribed treatment during crisis and in emergency room settings, to manage severe episodes.

Clinical Trials

There have been new developments in the treatment of CACT deficiency including clinical trials investigating:

• The use of an artificial fat in the place of MCT oil
• The use of a medication originally developed to lower blood cholesterol called bezafibrate, which may increase the amount of CACT protein in cells

For more specific details on clinical trials visit www.mitoaction.org/clinicaltrials or www.clincialtrials.gov

Resources

• The National Institutes of Health: Carnitine-acylcarnitine translocase deficiency – About the Disease
• The INFORM Network: CACT Deficiency | Fatty Acid Oxidation Disorders Diagnosis

Connecting with others who are impacted by a rare disease allows for important information to be shared about day-to day life, prevents isolation, and gives hope. Please contact MitoAction for FAOD peer support opportunities at 888-MITO-411 or email mito411@mitoaction.org

Last Updated: 2022-07-20

Carnitine palmitoyltransferase 1 deficiency, also known as CPT1a deficiency, is a type of genetic condition categorized as a fatty acid oxidation disorder (also known as a FAOD). The body usually gets its energy by breaking down, or burning, fats and sugars. People with FAODs cannot properly break down certain types of fats. For those with CPT1a deficiency, an enzyme needed to move long-chain fats into the mitochondria to be broken down for energy does not function properly. This prevents the body from creating needed energy during times of stress, illness, fasting, and exercise, which can lead to medical symptoms.

Genetics

People usually have two copies of the CPT1A gene, one inherited from each parent. CPT1a deficiency occurs when there are changes in both copies of the CPT1A gene (autosomal recessive inheritance). Someone who has a change in only one copy of the CPT1A gene is called a carrier, and they usually do not have any medical symptoms. If both parents are carriers, there is a 1 in 4 chance with each pregnancy that their child will have CPT1a deficiency. Both males and females can have CPT1a deficiency.

Frequency

The severe form of CPT1a deficiency is very rare with less than 60 cases identified worldwide. There is also a mild form of CPT1a deficiency frequently found in the Inupiaq, Yu’pik, and the Inuit populations in Alaska and Canada, as well as in Hutterite populations.

Signs and Symptoms

CPT1a deficiency can cause a range of signs and symptoms. Whether your child was diagnosed via newborn screening may also affect when, if, and how these symptoms present. Always check with your doctor if your child is doing something out of “their” normal, as every child may present with symptoms a little differently. Signs and symptoms may include:

• Life threatening low blood sugar with lack of ketones (hypoketotic hypoglycemia)
• Coma and seizures from hypoglycemia and hypoketosis
• Poor liver function
• Enlarged liver (hepatomegaly)
• Liver failure
• Organ failure

Diagnosis

Most cases of CPT1a deficiency are identified by routine newborn screening. If newborn screening is suggestive of CPT1a deficiency, additional tests may be performed including:

• Measuring biochemical markers in the blood or urine
• Performing a genetic test to look for changes in the CPT1A gene

In some cases a diagnosis of CPT1a deficiency can be made before birth. If there is a family history of CPT1a deficiency, or if parents are known carriers, testing can be performed on amniotic fluid (the fluid surrounding a baby) or chorionic villi (a specific part of the placenta).

Some pregnant mothers will experience a life threatening syndrome called HELLP syndrome during pregnancy. This may include high blood pressure, abnormal liver functions, and decreased blood clotting.

Treatment and Management

Before beginning any treatment or therapy, please consult with your physician.

Treatment and management of CPT1a deficiency may include:

• Regular eating schedules to prevent low blood sugar (hypoglycemia)
• Continuous feeding directly into the stomach in extreme cases
• Possible nutritional supplements like medium-chain triglycerides (e.g., MCT oil)
• Intravenous (IV) sugar-containing fluids called D10 to treat metabolic crisis

Parents should call their health care provider immediately if babies show symptoms like excessive sleepiness, vomiting, diarrhea, a fever, poor appetite, or an infection. Medical treatment should be sought immediately if there is loss of consciousness or severe confusion (decompensation), as these are signs of dangerously low blood sugar.

Patients should discuss the appropriate preparation for anesthesia with their metabolic team. All patients should have an emergency protocol letter, written and signed by their doctor, that details their prescribed treatment during crisis and in emergency room settings, to manage severe episodes.

Clinical Trials

The availability of active clinical trials for CPT1 deficiency can change over time. For more specific details on clinical trials visit www.mitoaction.org/clinicaltrials or www.clincialtrials.gov

Resources

• The National Institutes of Health: Carnitine-acylcarnitine translocase deficiency – About the Disease
•  The INFORM Network: CPT1a Deficiency | Fatty Acid Oxidation Disorders Diagnosis
• National Organization for Rare Disorders (NORD) Carnitine Palmitoyltransferase 1A Deficiency – NORD (National Organization for Rare Disorders)

Connecting with others who are impacted by a rare disease allows for important information to be shared about day-to day life, prevents isolation, and gives hope. Please contact MitoAction for FAOD peer support opportunities at 888-MITO-411 or email mito411@mitoaction.org

Last Updated: 2022-07-20

Carnitine palmitoyltransferase 2 deficiency, also known as CPT2 deficiency, is a type of genetic condition categorized as a fatty acid oxidation disorder (also known as a FAOD). The body usually gets its energy by breaking down, or burning, fats and sugars. People with FAODs cannot properly break down certain types of fats. For those with CPT2 deficiency, an enzyme that helps to prepare long-chain fatty acids for breakdown once they enter the mitochondria is not able to function properly. This prevents the body from creating needed energy during times of stress, illness, and fasting, which can lead to medical symptoms.

Genetics

People usually have two copies of the CPT2 gene, one inherited from each parent. CPT2 deficiency occurs when there are changes in both copies of the CPT2 gene (autosomal recessive inheritance). Someone who has a change in only one copy of the CPT2 gene is called a carrier, and they usually do not have any medical symptoms. If both parents are carriers, there is a 1 in 4 chance with each pregnancy that their child will have CPT2 deficiency. Both males and females can have CPT2 deficiency.

Frequency

CPT2 deficiency is the most common FAOD, and usually presents in a mild form. Over 300 mild cases have been reported worldwide, and it is thought that CPT2 deficiency is under-recognized.

Signs and Symptoms

CPT2 deficiency can occur in both mild and severe forms. Whether your child was diagnosed via newborn screening may also affect when, if, and how these symptoms present. Always check with your doctor if your child is doing something out of “their” normal, as every child may present with symptoms a little differently.

Patients with the severe form of CPT2 typically present as a baby. Signs and symptoms may include:

• Extreme tiredness (lethargy)
• Irritability
• Poor appetite
• A weakened heart muscle (cardiomyopathy)
• Abnormal heart rhythms (arrhythmias)
• Total failure of heart and lung function
• Low blood sugar with lack of ketones (hypoketotic hypoglycemia)
• Coma within days or weeks after birth (as a result of low blood sugar)

Patients with the mild form of CPT2 deficiency usually present in adolescence or early adulthood. Signs and symptoms may include:

• Brownish red urine indicating muscle breakdown (myoglobinuria)
• Muscle weakness or pain after exercise or other physical stress
• Muscle breakdown (rhabdomyolysis)
• High blood ammonia (hyperammonemia)
• Enlarged liver (hepatomegaly), especially when sick
• Enlarged, weakened heart (cardiomyopathy)
• Low blood sugar with lack of ketones (hypoketotic hypoglycemia)

Diagnosis

CPT2 deficiency can be diagnosed by:

• Clinical examination due to the signs and symptoms outlined above
• Measuring biochemical markers in the blood or urine (including acylcarnitine analysis and organic acid analysis)
• Measuring the amount of CPT2 activity in the blood or skin cells
• Performing a genetic test to look for changes in the CPT2 gene
• Prenatal testing of amniotic fluid or chorionic villi if there is a known family history of CPT2 deficiency

CPT2 deficiency can be identified by newborn screening; however, some mild cases may be missed during routine screening.

If there is a known family history of CPT2 deficiency, or if parents know they are known carriers, prenatal testing can be performed on amniotic fluid (the fluid surrounding a baby) or chorionic villi (a specific part of the placenta).

Treatment and Management

Before beginning any treatment or therapy, please consult with your physician.

Treatment and management of CPT2 deficiency may include:

• Regular eating schedules to prevent of low blood sugar (hypoglycemia)
• Continuous feeding directly into the stomach in extreme cases
• Possible nutritional supplements like medium-chain triglycerides (e.g., MCT oil)
• Possible pharmacological treatment using triheptanoin (Dojolvi)

Parents should call their health care provider immediately if babies show symptoms like excessive sleepiness, vomiting, diarrhea, a fever, poor appetite, or an infection. Medical treatment should be sought immediately if there is loss of consciousness or severe confusion (decompensation), as these are signs of dangerously low blood sugar.

Patients should discuss the appropriate preparation for anesthesia with their metabolic team. All patients should have an emergency protocol letter, written and signed by their doctor, that details their prescribed treatment during crisis and in emergency room settings, to manage severe episodes.

Clinical Trials

The availability of active clinical trials for CPT2 deficiency can change over time. For more specific details on clinical trials visit www.mitoaction.org/clinicaltrials or www.clincialtrials.gov

Resources

• The National Institutes of Health: Carnitine palmitoyltransferase 2 deficiency – About the Disease
• The INFORM Network: CPT2 Deficiency | Fatty Acid Oxidation Disorders Diagnosis
• National Organization for Rare Disorders (NORD): Carnitine palmitoyltransferase 2 deficiency – NORD (National Organization for Rare Disorders)

Connecting with others who are impacted by a rare disease allows for important information to be shared about day-to day life, prevents isolation, and gives hope. Please contact MitoAction for FAOD peer support opportunities at 888-MITO-411 or email mito411@mitoaction.org

Last Updated: 2022-07-20

Glutaric acidemia type II (also known as multiple acyl-CoA dehydrogenase deficiency, MADD/GA2) is a type of genetic condition categorized as a fatty acid oxidation disorder (also known as a FAOD). The body usually gets its energy by breaking down, or burning, fats and sugars. People with FAODs cannot properly break down certain types of fats and proteins. This prevents the body from creating enough energy during times of stress, illness, fasting, and exercise, which can lead to medical symptoms. In MADD/GA2, one of two small molecules, called electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH), are not able to do their jobs and unused fats and amino acids can build up to toxic levels in the body.

Genetics

Glutaric acidemia type II can be caused by changes in one of three genes: ETFA, ETFB, or ETFDH. People usually have two copies of each of these genes, one inherited from each parent. MADD/GA2 occurs when there are changes in both copies of one of these genes (autosomal recessive inheritance). Someone who has a change in only one copy of one of these genes is called a carrier, and they usually do not have any medical symptoms. If both parents are carriers, there is a 1 in 4 chance with each pregnancy that their child will have MADD/GA2. Both males and females can have MADD/GA2.

Frequency

Glutaric acidemia type II is very rare and is thought to occur in approximately 1 in every 250,000 newborns. In China, MADD/GA2 is much more common and occurs in approximately 1 in every 22,000 newborns of Han Chinese descent.

Signs and Symptoms

MADD/GA2 can present as a serious condition at birth or as a milder disease in adolescence or young adulthood. Whether your child was diagnosed via newborn screening may also affect when, if, and how these symptoms present. Always check with your doctor if your child is doing something out of “their” normal, as every child may present with symptoms a little differently.

The most common signs and symptoms when MADD/GA2 presents in a newborn include:

• Enlarged, weakened heart (cardiomyopathy)
• Enlarged liver (hepatomegaly)
• A characteristic smell like sweaty feet
• Changes in the brain (encephalopathy)
• Changes in the shape of some parts of the face or body
• Fluid-filled sacs in the kidney (cystic kidney)
• Muscle weakness (hypotonia)

Babies and children with milder forms of MADD/GA2 may only show symptoms after a mild health problem like an ear infection or stomach bug. Signs and symptoms may include:

• Trouble waking up and feeling tired (lethargy)
• Vomiting
• Irritability
• Muscle weakness, especially after exercising
• Muscle breakdown (rhabdomyolysis)

GA2/MADD can present in adolescence or young adulthood with muscle pain, weakness, and nausea.

Diagnosis

Most severe cases of MADD/GA2 are identified by routine newborn screening. (Please check your state to verify MADD/GA2 is on your newborn screening.) If newborn screening is suggestive of MADD/GA2, additional tests may be performed including:

• Measuring biochemical markers in the blood or urine (including organic acid analysis)
• Measuring ETF or ETFDH protein activity
• Genetic testing to look for changes in the three genes known to cause MADD/GA2

Severe forms of MADD/GA2 can be diagnosed before birth by measuring the level of glutaric acid in the fluid surrounding a baby (amniotic fluid). In some cases, an ultrasound can show cysts in the kidneys.

If there is a family history of MADD/GA2, or if parents are known carriers, prenatal testing can be performed on amniotic fluid (the fluid surrounding a baby) or chorionic villi (a specific part of the placenta).

Treatment and Management

Before beginning any treatment or therapy, please consult with your physician.

Without immediate treatment, babies with the most severe form of MADD/GA2often die during the first weeks of life, usually from heart problems. Fortunately, most babies who receive early treatment can survive well into adulthood. Treatment and management of MADD/GA2 may include:

• Frequent feedings with regular eating schedules
• Low fat, low protein, high carbohydrate diet
• Continuous feeding directly into the stomach in some cases, especially at night
• Possible nutritional supplements including: riboflavin (Vitamin B2) and glycine
• Carnitine (to help remove unused fats and amino acids)
• Intravenous (IV) sugar-containing fluids called D10 to treat metabolic crisis

Children with mild forms of MADD/GA2 are typically given liquids containing sugars on a frequent basis. Parents should call their health care provider immediately if babies show symptoms like excessive sleepiness, vomiting, diarrhea, a fever, poor appetite, or an infection. Medical treatment should be sought immediately if there is loss of consciousness or severe confusion (decompensation), as these are signs of dangerously low blood sugar.

Patients should discuss the appropriate preparation for anesthesia with their metabolic team. All patients should have an emergency protocol letter, written and signed by their doctor, that details their prescribed treatment during crisis and in emergency room settings, to manage severe episodes.

Clinical Trials

The availability of active clinical trials for MADD/GA2 deficiency can change over time. For more specific details on clinical trials visit www.mitoaction.org/clinicaltrials or www.clinicaltrials.gov.

Resources

• The National Institutes of Health: Glutaric acidemia type II – About the Disease
• The INFORM Network: MADD/GA2 Deficiency | Fatty Acid Oxidation Disorders Diagnosis
• National Organization for Rare Disorders (NORD): Glutaric Aciduria Type II – NORD (National Organization for Rare Disorders)

Connecting with others who are impacted by a rare disease allows for important information to be shared about day-to day life, prevents isolation, and gives hope. Please contact MitoAction for FAOD peer support opportunities at 888-MITO-411 or email mito411@mitoaction.org.

Last Updated: 2022-07-20

Medium-chain acyl-CoA dehydrogenase deficiency, also known as MCAD deficiency, is a type of genetic condition categorized as a fatty acid oxidation disorder (also known as a FAOD). The body usually gets its energy by breaking down, or burning, fats and sugars. People with FAODs cannot properly break down certain types of fats. For those with MCAD deficiency, the enzyme that is needed to break down medium-chain fats is unable to function properly. This prevents the body from creating needed energy during times of stress, illness, fasting, and exercise, which can lead to medical symptoms.

Genetics

People usually have two copies of the ACADM gene, one inherited from each parent. MCAD deficiency occurs when there are changes in both copies of the ACADM gene (autosomal recessive inheritance). Someone who has a change in only one copy of the ACADM gene is called a carrier, and they usually do not have any medical symptoms. If both parents are carriers, there is a 1 in 4 chance with each pregnancy that their child will have MCAD deficiency. Both males and females can have MCAD deficiency.

Frequency

MCAD deficiency is found worldwide, affecting approximately 1 in 20,000 births. The exact frequency of MCAD deficiency varies in different countries (for example, in northern Germany 1:4,900 babies have MCAD deficiency, but in Japan 1:51,000 babies have MCAD deficiency).

Signs and Symptoms

MCAD deficiency can cause a range of signs and symptoms. Whether your child was diagnosed via newborn screening may also affect when, if, and how these symptoms present. Always check with your doctor if your child is doing something out of “their” normal, as every child may present with symptoms a little differently. Signs and symptoms may include:

• Low blood sugar (hypoglycemia)
• Low ketones (hypoketosis)
• Coma and seizures (from hypoglycemia and hypoketosis)
• Enlarged liver (hepatomegaly)
• Vomiting

As children get older, they usually have fewer serious episodes. Some people with MCAD deficiency who were born before newborn screening, or were not picked up by newborn screening, may have mild signs and symptoms of MCAD deficiency when they are adults. These patients may also have episodes of muscle breakdown (rhabdomyolysis).

Diagnosis

Most cases of MCAD deficiency are identified by routine newborn screening. If newborn screening is suggestive of MCAD deficiency, additional tests may be performed including:

• Measuring biochemical markers in the blood or urine, including an acylcarnitine profile
• Performing a genetic test to look for changes in the ACADM gene

Before newborn screening, about 25% of children died during their first episode/crisis. These deaths were often labeled as sudden infant death syndrome (SIDS). When a diagnosis is made early in life and management recommendations are followed, outcomes are generally very good. If there is a family history of MCAD deficiency, or if parents are known carriers, prenatal testing can be performed on amniotic fluid (the fluid surrounding a baby) or chorionic villi (a specific part of the placenta).

Treatment and Management

Before beginning any treatment or therapy, please consult with your physician.

Treatment and management of MCAD deficiency may include:

• Regular eating schedules to prevent low blood sugar (hypoglycemia)
• Avoidance of certain nutritional supplements (e.g., MCT oil)
• Modest reduction of fat to less than 30% of caloric intake
• Use of supplemental carnitine (controversial)
• Intravenous (IV) sugar-containing fluids called D10 during metabolic crisis

Parents should call their health care provider immediately if babies show symptoms like excessive sleepiness, vomiting, diarrhea, a fever, poor appetite, or an infection. Medical treatment should be sought immediately if there is loss of consciousness or severe confusion (decompensation), as these are signs of dangerously low blood sugar.

Patients should discuss the appropriate preparation for anesthesia with their metabolic team. All patients should have an emergency protocol letter, written and signed by their doctor, that details their prescribed treatment during crisis and in emergency room settings, to manage severe episodes.

Clinical Trials

At this time there are studies focused on MCAD deficiency or other related disorders in both the United States and Europe. The number of studies, recruitment status, and study focuses can change over time. For more specific details on clinical trials visit www.mitoaction.org/clinicaltrials or www.clincialtrials.gov.

Resources

• The National Institutes of Health: Medium-chain acyl-coenzyme A dehydrogenase deficiency – About the Disease
• The INFORM Network: MCAD Deficiency | Fatty Acid Oxidation Disorders Diagnosis
• National Organization for Rare Disorders (NORD): Medium Chain Acyl CoA Dehydrogenase Deficiency – NORD (National Organization for Rare Disorders)

Connecting with others who are impacted by a rare disease allows for important information to be shared about day-to day life, prevents isolation, and gives hope. Please contact MitoAction for FAOD peer support opportunities at 888-MITO-411 or email mito411@mitoaction.org.

Last Updated: 2022-07-20

Medium chain 3-ketoacyl-CoA thiolase deficiency, also known as MCKAT deficiency, is a type of genetic condition categorized as a fatty acid oxidation disorder (also known as a FAOD). The body usually gets its energy by breaking down, or burning, fats and sugars. People with FAODs cannot properly break down certain types of fats. This prevents the body from creating needed energy during times of stress, illness, fasting, and exercise, which can lead to medical symptoms.

Frequency and Genetics

MCKAT deficiency is very rare, and the exact frequency is unknown. MCKAT deficiency is the rarest FAOD. The gene that causes MCKAT deficiency and the way it is inherited is not currently known.

Signs and Symptoms

There is limited information about the signs and symptoms of MCKAT deficiency since so few cases have been reported. In the first reported case, a 2-day-old baby showed signs of:

• Vomiting
• Dehydration
• Acidic blood (metabolic acidosis)
• Liver disease
• Severe muscle breakdown (rhabdomyolysis)
• Reddish-brown urine (myoglobinuria)

Older patients have shown other signs and symptoms, including:

• Low blood sugar (hypoglycemia)
• Vomiting
• Floppiness/poor muscle tone (hypotonia)
• Coma if the time between feedings is too long (fasting intolerance)
• Enlarged heart (cardiomyopathy)

In one case, the first sign of MCKAT deficiency was sudden death.

Diagnosis

There is very limited information on how babies with MCKAT were diagnosed. The only extensive reports were taken from the first case of MCKAT which occurred in a 2-day old baby. Testing showed high levels of lactic acids, ketones and dicarboxylic acids. Testing on skin cells showed that certain fats made little energy. Testing also showed low MCKAT activity level and reduced MCKAT protein. Testing a baby for MCKAT before birth is not currently possible, as the gene that causes MCKAT is unknown.

Treatment and Management

Before beginning any treatment or therapy, please consult with your physician. There are no established treatments for MCKAT deficiency. Individuals with symptoms like dehydration, low blood sugar, and heart malfunctions should be treated immediately as they could have one of the many other fatty oxidation disorders. It is important to stay in close contact with your child’s doctor as new treatments may develop over time.

Clinical Trials

The availability of active clinical trials for MCKAT deficiency can change over time. For more specific details on clinical trials visit www.mitoaction.org/clinicaltrials or www.clincialtrials.gov.

Resources

• The INFORM Network: MCKAT Deficiency | Fatty Acid Oxidation Disorders Diagnosis
• Baby’s First Test: Newborn screening information for medium-chain ketoacyl-CoA thiolase deficiency | Baby’s First Test

Connecting with others who are impacted by a rare disease allows for important information to be shared about day-to day life, prevents isolation, and gives hope. Please contact MitoAction for FAOD peer support opportunities at 888-MITO-411 or email mito411@mitoaction.org.

Last Updated: 2022-07-20

Medium/short chain L-3-hydroxyacyl-CoA dehydrogenase deficiency, also known as M/SCHAD deficiency, is a type of genetic condition categorized as a fatty acid oxidation disorder (also known as a FAOD). The body usually gets its energy by breaking down, or burning, fats and sugars. People with FAODs cannot properly break down certain types of fats. This prevents the body from creating needed energy during times of stress, illness, fasting, and exercise, which can lead to medical symptoms. In M/SCHAD deficiency, too much insulin goes into the blood, which causes low blood sugar levels. M/SCHAD deficiency is also part of a group of genetic conditions called familial hyperinsulinism (also known as congenital hyperinsulinism/CHI or persistent hyperinsulinemic hypoglycemia of infancy/PHHI).

Genetics

People usually have two copies of the HADHSC gene (sometimes called the HADH gene), one inherited from each parent. M/SCHAD deficiency occurs when there are changes in both copies of the HADHSC gene (autosomal recessive inheritance). Someone who has a change in only one copy of the HADHSC gene is called a carrier, and they usually do not have any medical symptoms. If both parents are carriers, there is a 1 in 4 chance with each pregnancy that their child will have M/SCHAD deficiency. Both males and females can have M/SCHAD deficiency.

Frequency

M/SCHAD deficiency is very rare, and the exact frequency is unknown.

Signs and Symptoms

M/SCHAD deficiency can cause a range of signs and symptoms. Whether your child was diagnosed via newborn screening may also affect when, if, and how these symptoms present. Always check with your doctor if your child is doing something out of “their” normal, as every child may present with symptoms a little differently. Signs and symptoms may include:

• Extreme sleepiness (lethargy)
• Irritability
• Poor appetite
• Mood changes

Without treatment, people with M/SCHAD deficiency can have additional signs and symptoms including:

• Low blood sugar (hypoglycemia)
• Fever
• Diarrhea
• Vomiting
• Coma and seizures
• Breathing problems
• Low blood sugar (hypoglycemia)
• Fever
• Diarrhea
• Vomiting
• Coma and seizures
• Breathing problems

Diagnosis

Most cases of M/SCHAD deficiency are identified by routine newborn screening. If newborn screening is suggestive of M/SCHAD deficiency, additional tests may be performed including:

• Measuring biochemical markers in the blood or urine
• Measuring M/SCHAD protein activity from skin cell samples (cultured fibroblasts)
• Performing a genetic test to look for changes in the HADHSC gene

If there is a known family history of M/SCHAD deficiency, or if parents know they are known carriers, prenatal testing can be performed on amniotic fluid (the fluid surrounding a baby) or chorionic villi (a specific part of the placenta).

Treatment and Management

Before beginning any treatment or therapy, please consult with your physician.

Treatment and management of M/SCHAD deficiency includes:

• Regular eating schedules to prevent low blood sugar (hypoglycemia)
• Medication called diazoxide to reduce insulin levels in the blood
• Intravenous (IV) sugar-containing fluids called D10 during metabolic crisis

Parents should call their health care provider immediately if babies show symptoms like excessive sleepiness, vomiting, diarrhea, a fever, poor appetite, or an infection. Medical treatment should be sought immediately if there is loss of consciousness or severe confusion (decompensation), as these are signs of dangerously low blood sugar.

Patients should discuss the appropriate preparation for anesthesia with their metabolic team. All patients should have an emergency protocol letter, written and signed by their doctor, that details their prescribed treatment during crisis and in emergency room settings, to manage severe episodes.

Clinical Trials

The availability of active clinical trials for M/SCHAD deficiency can change over time. For more specific details on clinical trials visit www.mitoaction.org/clinicaltrials or www.clincialtrials.gov

Resources

• The National Institutes of Health: 3-alpha hydroxyacyl-CoA dehydrogenase deficiency – About the Disease
• The INFORM Network: M/SCHAD Deficiency | Fatty Acid Oxidation Disorders Diagnosis
• Baby’s First Test: Conditions Medium/Short-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency

Connecting with others who are impacted by a rare disease allows for important information to be shared about day-to day life, prevents isolation, and gives hope. Please contact MitoAction for FAOD peer support opportunities at 888-MITO-411 or email mito411@mitoaction.org.

Last Updated: 2022-07-20

Short-chain acyl-CoA dehydrogenase deficiency, also known as SCAD deficiency, is a type of genetic condition categorized as fatty acid oxidation disorders (also known as a FAODs). The body usually gets its energy by breaking down, or burning, fats and sugars. People with FAODs cannot properly break down certain types of fats. This prevents the body from creating needed energy during times of stress, illness, fasting, and exercise, which can lead to medical symptoms.

The SCAD defect creates a loss of function toward the end of fat metabolism. Fortunately, due to the enzyme position in the breakdown of fat, SCAD deficiency may lead to less severe symptoms or even no symptoms (asymptomatic). Your doctor will work with you to help you better understand what SCAD means for you.

Genetics

People usually have two copies of the ACADS gene, one inherited from each parent. SCAD deficiency occurs when there are changes in both copies of the ACADS gene (autosomal recessive inheritance). Someone who has a change in only one copy of the ACAD9 gene is called a carrier, and they usually do not have any medical symptoms. If both parents are carriers, there is a 1 in 4 chance with each pregnancy that their child will have SCAD deficiency. Both males and females can have SCAD deficiency.

There are two common changes in the ACADS gene. These changes still alter the way the ACADS protein works, but the protein made is usually still able to do its job well enough that the person with SCAD deficiency doesn’t get sick. Some rare changes in the ACADS gene cause more of an effect on protein function, but people with these changes rarely get sick from SCAD deficiency. There is one rare genetic change that can cause the biggest effect on the ACADS protein when combined with one of the common changes.

Frequency

SCAD deficiency occurs in babies around the world. Some sources say that approximately 1 in 40,000 to 1 in 100,000 babies has SCAD deficiency, while others report higher numbers.

Signs and Symptoms

Most people with SCAD deficiency do not show any signs or symptoms of the condition. Reports of peo-ple with SCAD deficiency that did have signs or symptoms included:

• Poor muscle tone (hypotonia)
• Muscle weakness/breakdown (myopathy) and storage of fat in muscles
• Failure to thrive
• A buildup of acid in the body that can cause nausea, vomiting, fast breathing and extreme tiredness (metabolic acidosis)
• A buildup of acid in the body in newborns that causes increased muscle tone (hyperreflexia)
• Coma from high levels of ammonia in the blood (hyperammonemic coma)

Unlike other FAODs, SCAD deficiency does not cause low blood sugar (hypoglycemia) or low ketones (hypoketosis).

Diagnosis

Most cases of SCAD deficiency are identified by routine newborn screening. If newborn screening is suggestive of SCAD deficiency, additional tests may be performed including:

• Measuring biochemical markers in the blood or urine
• Performing a genetic test to look for changes in the genes that cause FAODs

Many newborn screening programs do not report when a baby has high levels of butyrylcarnitine (a sign of SCAD deficiency) since most SCAD deficiency is not considered harmful (benign). High levels of butyrylcarnitine are still sometimes reported on newborn screening because this, along with high levels of ethylmalonic acid, can happen in other metabolic conditions besides SCAD deficiency. Children who have signs or symptoms of FAODs along with high levels of these metabolites may be referred for further testing to rule out other conditions.

Treatment and Management

Before beginning any treatment or therapy, please consult with your physician. Most people with SCAD deficiency do not require a specific treatment for SCAD, but if symptoms do occur a patient/caregiver should contact their doctor.

Clinical Trials

The availability of active clinical trials for SCAD deficiency can change over time. For more specific details on clinical trials visit www.mitoaction.org/clinicaltrials or www.clincialtrials.gov.

Resources

• The National Institutes of Health: Short-chain acyl-CoA dehydrogenase deficiency – About the Disease
• The INFORM Network: SCAD Deficiency | Fatty Acid Oxidation Disorders Diagnosis
• Baby’s First Test: Newborn screening information for short-chain acyl-CoA dehydrogenase deficiency | Baby’s First Test

Connecting with others who are impacted by a rare disease allows for important information to be shared about day-to day life, prevents isolation, and gives hope. Please contact MitoAction for FAOD peer support opportunities at 888-MITO-411 or email mito411@mitoaction.org.

Last Updated: 2022-07-20

Mitochondrial trifunctional protein deficiency, also known as TFP deficiency, and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, also known as LCHAD deficiency, are two related types of genetic conditions categorized as a fatty acid oxidation disorders (also known as a FAODs). The body usually gets its energy by breaking down, or burning, fats and sugars. People with FAODs cannot properly break down certain types of fats. For those with TFP and/or LCHAD deficiency the enzymes that are needed to break down long-chain fats are unable to function properly. This prevents the body from creating needed energy during times of stress, illness, fasting, and exercise, which can lead to medical symptoms.

TFP is a protein complex with three separate enzymes that work together to break down long-chain fats. The LCHAD enzyme is the second enzyme in the TFP protein complex and is altered in LCHAD deficiency. TFP typically creates a deficiency in all three enzymes. When someone has a deficiency in the TFP protein complex, very little energy is created from long-chain fats.

Genetics

TFP/LCHAD deficiency is caused by genetic changes in one of two genes: HADHa or HADHb. These genes both provide instructions for the body to make TFP. Most genetic changes in the gene HADHa cause problems with LCHAD function. Changes in the gene HADHb usually affect all three enzymatic functions of the TFP.
People usually have two copies of both of these genes, one inherited from each parent. TFP deficiency occurs when there are changes in both copies of either HADHa or HADHb (autosomal recessive inheritance). Someone who has a change in only one copy of either of these genes is called a carrier, and they usually do not have any medical symptoms. If both parents are carriers, there is a 1 in 4 chance with each pregnancy that their child will have TFP/LCHAD deficiency. Both males and females can have TFP deficiency/LCHAD deficiency.

Frequency

TFP deficiency is considered a rare condition and the exact number of affected individuals is not known. The number of people affected with LCHAD deficiency is also unknown, but may be more common in people from Finland. Newborn screening has confirmed an estimated incidence of 1.2/100,000. (1)

Signs and Symptoms

People with TFP/LCHAD deficiency can have a wide range of signs and symptoms. Whether your child was diagnosed via newborn screening may also affect when, if, and how these symptoms present. Always check with your doctor if your child is doing something out of “their” normal, as every child may present with symptoms a little differently. Signs and symptoms may include:

• Extreme tiredness (lethargy) or acting “sluggish”
• Irritability
• Poor feeding
• Enlarged, weakened heart (cardiomyopathy)
• Abnormal heart rhythm (arrhythmia)
• Liver malfunctions that can become life-threatening
• Specific type of vision loss (pigmentary retinopathy)
• Low blood sugar (hypoglycemia)
• Nerve damage in the legs and hands (peripheral neuropathy)
• Low muscle tone (hypotonia)
• Muscle weakness (myopathy)
• Muscle breakdown (rhabdomyolysis)
• Reddish-brown urine (myoglobinuria)

The potential for muscle breakdown (rhabdomyolysis), is increased by illness, stress, cold/heat and exercise, and should be treated promptly. Medical treatment should be sought immediately if there is loss of consciousness or severe confusion (decompensation), as these are signs of dangerously low blood sugar.

These signs and symptoms may vary depending on age, treatment, and if in crisis. With proper treatment some of these symptoms may be attenuated/controlled in patients between episodes of crisis.

Diagnosis

Most cases of TFP/LCHAD deficiency are identified by routine newborn screening. If newborn screening is suggestive of TFP/LCHAD deficiency, additional tests may be performed including:

• Measuring biochemical markers in the blood or urine
• Measuring enzyme activity in skin cells or white blood cells
• Performing a genetic test to look for changes in genes that can cause FAODs

Some people with milder cases of TFP deficiency are not diagnosed until adolescence. These individuals often present with:

• Repeated episodes of severe muscle pain
• Muscle breakdown, especially after heavy exercise (rhabdomyolysis)
• Reddish-brown urine (myoglobinuria)

In some cases, a diagnosis of TFP/LCHAD deficiency can be made before birth. If there is a family history of TFP/LCHAD deficiency, or if parents are known carriers, prenatal testing can be performed on amniotic fluid (the fluid surrounding a baby) or chorionic villi (a specific part of the placenta).

Some pregnant mothers will experience a life threatening syndrome called HELLP syndrome during pregnancy. This may include high blood pressure, abnormal liver functions, and decreased blood clotting.

Treatment and Management

Before beginning any treatment or therapy, please consult with your physician. Treatment and management of TFP/LCHAD deficiency may include:

• Specialized medical formulas
• Regular eating schedules to prevent low blood sugar (hypoglycemia)
• Continuous feeding directly into the stomach in severe cases, especially at night
• Low-fat, high-carbohydrate diet (some dieticians may also increase protein)
• Medicine called triheptanoin (Dojolvi)
• MCT supplementation
• Intravenous (IV) sugar-containing fluids called D10 during metabolic crisis
• Supplementation with docosahexaenoic acid (DHA) to help prevent vision damage to part of the eye called the retina (retinopathy)

Parents should call their health care provider immediately if babies show symptoms like excessive sleep-iness, vomiting, diarrhea, a fever, poor appetite, or an infection. Medical treatment should be sought immediately if there is loss of consciousness or severe confusion (decompensation), as these are signs of dangerously low blood sugar.

Patients should discuss the appropriate preparation for anesthesia with their metabolic team. All patients should have an emergency protocol letter, written and signed by their doctor, that details their prescribed treatment during crisis and in emergency room settings, to manage severe episodes.

Clinical Trials

At this time there are multiple active clinical trials for TFP/LCHAD deficiency in the United States. The number of studies, study focuses, and enrollment statuses can change over time. For more specific de-tails on clinical trials visit www.mitoaction.org/clinicaltrials or www.clincialtrials.gov.

Resources

• The National Institutes of Health: Mitochondrial trifunctional protein deficiency – About the Disease
• The INFORM Network: MTP/LCHAD Deficiency | Fatty Acid Oxidation Disorders Diagnosis
• Baby’s First Test: Newborn screening information for trifunctional protein deficiency | Baby’s First Test

References

1. Rücklová, Kristina et al. “Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nation-
   wide Study.” Nutrients vol. 13,9 2925. 24 Aug. 2021.

Connecting with others who are impacted by a rare disease allows for important information to be shared about day-to day life, prevents isolation, and gives hope. Please contact MitoAction for FAOD peer support opportunities at 888-MITO-411 or email mito411@mitoaction.org.

Last Updated: 2022-07-20

Very long-chain acyl-CoA dehydrogenase deficiency, also known as VLCAD deficiency, is a type of genetic condition categorized as a fatty acid oxidation disorder (also known as a FAOD). The body usually gets its energy by breaking down, or burning, fats and sugars. People with FAODs cannot properly break down certain types of fats. For those with VLCAD deficiency, the enzyme that is needed to break down very long-chain fats is unable to function properly. This prevents the body from creating needed energy during times of stress, illness, fasting, and exercise, which can lead to medical symptoms.

Genetics

People usually have two copies of the ACADVL gene, one inherited from each parent. VLCAD deficiency occurs when there are changes in both copies of the ACADVL gene (autosomal recessive inheritance). Someone who has a change in only one copy of the ACADVL gene is called a carrier, and they usually do not have any medical symptoms. If both parents are carriers, there is a 1 in 4 chance with each pregnancy that their child will have VLCAD deficiency. Both males and females can have VLCAD deficiency.

Frequency

The exact frequency of VLCAD deficiency is unknown. Some studies estimate that as many as 1 in 30,000 people have VLCAD deficiency. Routine newborn screening has found that VLCAD deficiency is more common than previously thought, but many of these babies did not show symptoms in early life.

Signs and Symptoms

The signs and symptoms of VLCAD deficiency vary from mild to severe and can happen at any age. Whether your child was diagnosed via newborn screening may also affect when, if, and how these symptoms present. Always check with your doctor if your child is doing something out of “their” nor-mal, as every child may present with symptoms a little differently. People with VLCAD deficiency may experience different symptoms as they age.

Signs and symptoms of VLCAD deficiency in babies may include:

• Low blood sugar that can be life-threatening (hypoglycemia)
• A specific type of low blood sugar only seen in FAODs (hypoketotic hypoglycemia)
• Coma within days or weeks after birth (as a result of low blood sugar)
• High levels of ammonia in the blood (hyperammonemia)
• Abnormal heart rhythm (arrhythmia)

As babies grow from about ages two months to two years they may experience other symptoms including:

• Extreme tiredness (lethargy)
• Muscle weakness
• Irritability
• Enlarged liver when sick (hepatomegaly)
• Enlarged weakened heart muscle (cardiomyopathy)
• Abnormal heart rhythm (arrhythmia)
• Muscle pain and dark urine (myoglobinuria) caused by muscle breakdown (rhabdomyolysis)
• Total lung and heart function failure

During childhood and early adulthood episodes of low blood sugar associated with life-threatening comas usually become less common but patients may still experience:

• Periodic muscle pain caused by skeletal muscle breakdown (rhabdomyolysis)
• Dark-brown urine (a sign of myoglobinuria/rhabdomyolysis)
• Poor muscle tone (hypotonia)
• Heart problems (cardiomyopathy)
• Abnormal heart rhythm (arrhythmia)

The potential for muscle breakdown (rhabdomyolysis), is increased by illness, stress, cold/heat and exercise, and should be treated promptly. Some people with a milder form of VLCAD deficiency may only have episodes of muscle pain after severe illness or heavy exercise. Some people with VLCAD deficiency do not have signs or symptoms between episodes. Others may continue to have poor muscle tone (hypotonia) or chronic heart problems/failure.

Diagnosis

Most cases of VLCAD deficiency are identified by routine newborn screening. If newborn screening is suggestive of VLCAD deficiency, additional tests may be performed including:

• Measuring biochemical markers in the blood or urine
• Measuring VLCAD protein activity from blood or skin cell samples (cultured fibroblasts)
• Performing a genetic test to look for changes in the ACADVL gene or a group of genes that can cause FAODs

In some cases, a diagnosis of VLCAD deficiency can be made before birth. If there is a family history, prenatal testing can be performed on amniotic fluid (the fluid surrounding a baby) or chorionic villi (a specific part of the placenta).

Some pregnant mothers will experience a life threatening condition called HELLP syndrome during pregnancy. This may include high blood pressure, abnormal liver functions, and decreased blood clotting.

Some individuals with VLCAD deficiency may not be diagnosed until later in life if their newborn screening wasn’t completed properly or if they were not screened at all. Others may also have a milder form of VLCAD deficiency that did not cause signs or symptoms in early life.

Treatment and Management

Before beginning any treatment or therapy, consult with your physician.

Management and treatment of VLCAD deficiency may include:

• Specialized medical formulas
• Regular eating schedules to prevent low blood sugar (hypoglycemia)
• Continuous feeding directly into the stomach in severe cases, especially at night
• Low-fat, high-carbohydrate diet
• Medicine called triheptanoin (Dojolvi)
• MCT oil supplementation
• Possible supplements including carnitine (Carnitor) and riboflavin (Vitamin B2)
• Intravenous (IV) sugar-containing fluids called D10 to treat metabolic crisis

In some mild cases monitoring exercise, avoiding cold/heat exposure, and not fasting may be enough to control and manage symptoms.

Parents should call their health care provider immediately if babies show symptoms like excessive sleepiness, vomiting, diarrhea, a fever, poor appetite, or an infection. Medical treatment should be sought immediately if there is loss of consciousness or severe confusion (decompensation), as these are signs of dangerously low blood sugar.

Patients should discuss the appropriate preparation for anesthesia with their metabolic team. All patients should have an emergency protocol letter, written and signed by their doctor, that details their prescribed treatment during crisis and in emergency room settings, to manage severe episodes.

Clinical Trials

At this time there are multiple active clinical trials for VLCAD deficiency in the United States. The number of trials, trial focuses, and recruitment statuses can change over time. For more specific details on clinical trials visit www.mitoaction.org/clinicaltrials or www.clincialtrials.gov.

Resources

• The National Institutes of Health: VLCAD deficiency – About the Disease
• The INFORM Network: VLCAD Deficiency | Fatty Acid Oxidation Disorders Diagnosis
• Baby’s First Test: Newborn screening information for very-long-chain acyl-CoA dehydrogenase deficiency | Baby’s First Test
• Nutrition management guidelines: Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach

Connecting with others who are impacted by a rare disease allows for important information to be shared about day-to day life, prevents isolation, and gives hope. Please contact MitoAction for FAOD peer support opportunities at 888-MITO-411 or email mito411@mitoaction.org.

Last Updated: 2022-07-20