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Types of Mitochondrial Diseases

Mitochondrial disease is an inherited chronic illness that can be present at birth or develop later in life. There are many types of mitochondrial diseases and it is estimated that 1 in 4,000 people have Mito.

Mitochondrial disease is an inherited chronic illness that can be present at birth or develop later in life. There are many types of mitochondrial diseases and it is estimated that 1 in 4,000 people have Mito.

Mitochondria are the parts of the cell that help turn the energy we get from food into energy that the body can use. They are also important in the communication between body parts and in creating other materials the body needs. Mitochondrial conditions can cause a variety of signs and symptoms in many parts of the body, particularly those that use a lot of energy like muscles and the brain. Depending on how severe the mitochondrial disorder is, the illness can range in severity from mild to fatal.

It is important to determine which type of mitochondrial disease is present, in order to determine the best course of treatment and to predict the risk of recurrence for future children. We encourage you to take a look at the different types of mitochondrial diseases below.

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

Types of Mitochondrial Diseases & Related Conditions

  • ADOA: Autosomal Dominant Optic Atrophy
    Autosomal Dominant Optic Atrophy is a neuro-ophthalmic condition that tends to begin in the first ten years of life and is characterized by degeneration of the optic nerves, causing visual loss. The severity of the disease is highly variable, with ... Read More
  • Alpers Disease
    Alpers disease is a rare mitochondrial condition where the protein that helps replicate and repair the mitochondrial DNA does not work as well as it should. Mitochondria are parts of a cell that help turn the energy we get from ... Read More
  • Barth Syndrome
    Barth syndrome is a rare mitochondrial condition where a protein on the mitochondrial membrane doesn’t work as well as it should, resulting in immature cardiolipin production. Cardiolipin is important for the structure and organization of the mitochondria as well as ... Read More
  • CDD: Creatine Deficiency Disorders
    The creatine deficiency disorders (CDDs), inborn errors of creatine metabolism and transport, comprise three disorders: Guanidinoacetate methyltransferase (GAMT) deficiency L-arginine:glycine amidinotransferase (AGAT) deficiency Creatine transporter (CRTR) deficiency Read More
  • Co-Enzyme Q10 Deficiency
    Co-Enzyme Q10 Deficiency – an autosomal recessive condition with a clinical spectrum that encompasses at least five major phenotypes: (1) encephalomyopathy characterized by the triad of recurrent myoglobinuria, brain involvement, and ragged red fibers; (2) severe infantile multisystemic disease; (3) ... Read More
  • CPEO: Chronic Progressive External Ophthalmoplegia
    Chronic Progressive External Ophthalmoplegia, also known as CPEO, is a symptom that can occur in several mitochondrial conditions. Mitochondria are parts of a cell that help turn the energy we get from food into energy that the body can use. ... Read More
  • Friedreich’s Ataxia
    Friedreich’s ataxia (FRDA) is the most common of the early-onset inherited ataxias and accounts for approximately half of the cases of hereditary ataxia reported from Europe and the United States (1). FRDA is transmitted as an autosomal recessive trait, with ... Read More
  • KSS: Kearns-Sayre syndrome
    Kearns-Sayre syndrome, also known as KSS, is a rare mitochondrial condition where a large part of the mitochondrial genome, or set of DNA contained in the mitochondria of a cell, is missing. Mitochondria are parts of a cell that help ... Read More
  • Lactic Acidosis
    Lactic acidosis occurs when lactate and other molecules, called protons, build up faster than the body can remove them. This can cause low levels of oxygen in body tissues. Lactate is a normal substance made by many organs in the ... Read More
  • Leigh Syndrome
    Leigh syndrome is a rare mitochondrial condition where the body is not able to use oxygen to change energy from food into a form of energy it can use the way that it should. Mitochondria are parts of a cell ... Read More
  • LHON Plus: Lebers Hereditary Optic Neuropathy Plus
    Lebers Hereditary Optic Neuropathy Plus disease, also known as LHON Plus, is a rare mitochondrial condition that causes vision loss and non-vision-related symptoms. Mitochondria are parts of a cell that help turn the energy we get from food into energy ... Read More
  • LHON: Leber Hereditary Optic Neuropathy
    Leber Hereditary Optic Neuropathy (or LHON) is an inherited form of vision loss that can result in sudden, painless loss of central vision due to optic nerve atrophy. Read More
  • Luft Disease
    Luft disease is a very rare mitochondrial condition with only two reported cases. Mitochondria are the parts of a cell that help turn the energy we get from food into energy that the body can use. They are also important ... Read More
  • MDS: Mitochondrial DNA Depletion Syndrome
    Mitochondrial DNA depletion syndrome, also known as MDS, is a group of genetic conditions affecting the mitochondria. For those with MDS, there isn’t enough mitochondria in certain tissues or body parts. Mitochondria are parts of a cell that help turn ... Read More
  • MELAS: Mitochondrial Myopathy Encephalopathy Lactic Acidosis and Stroke-Like Episodes
    Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome, also known as MELAS, is a rare mitochondrial condition where the body is not able to make enough mitochondrial proteins needed to make energy. Mitochondria are parts of a cell that help ... Read More
  • MERRF: Myoclonic Epilepsy with Ragged-Red Fibers
    Myoclonic epilepsy with ragged-red fibers, also known as MERRF, is a rare mitochondrial condition where the mitochondria are not able to make proteins, use oxygen, and produce energy properly. Mitochondria are parts of a cell that help turn the energy ... Read More
  • MIDD: Maternally Inherited Diabetes and Deafness
    Maternally inherited diabetes and deafness, also known as MIDD, is a rare mitochondrial condition that slows down the mitochondria’s ability to make proteins. This causes the mitochondria to not work as well as they should, and is thought to impact ... Read More
  • Mitochondrial Myopathy
    Mitochondrial Myopathy is a mitochondrial disease causing significant muscular problems is referred to as mitochondrial myopathy, while a mitochondrial disease that causes significant neurological and muscular problems is termed as mitochondrial encephalomyopathy. Organs such as the brain, skeletal muscles, and ... Read More
  • MNGIE: Mitochondrial Neurogastrointestinal Encephalopathy
    Mitochondrial Neurogastrointestinal Encephalopathy, also known as MNGIE, is a rare mitochondrial condition where errors in the mitochondrial genome (the set of DNA contained in a cell’s mitochondria) build up over time in different tissues. Mitochondria are parts of a cell ... Read More
  • mtARS: Mitochondrial Aminoacyl-tRNA Synthetase Disorders
    Mitochondrial ARS (Aminoacyl-tRNA Synthetase) Disorders (mtARS) are a group of rare genetic disorders. The disorders are caused by mutations in the aminoacyl-tRNA synthetases (ARS) genes, which are responsible for the production of enzymes essential for mitochondrial protein synthesis. Read More
  • Multiple Mitochondrial Dysfunction Syndrome
    Children suffering from the neurodevelopmental disorder are affected with early onset of neurological deterioration, seizures, extensive white matter abnormalities, cortical migrational abnormalities, lactic acidosis, and early demise. Read More
  • NARP: Neuropathy Ataxia Retinitis Pigmentosa Syndrome
    Neuropathy ataxia retinitis pigmentosa syndrome, also known as NARP, is a rare mitochondrial condition where the mitochondria are not able to produce ATP molecules properly. ATP molecules are the cell’s main energy source. Mitochondria are parts of a cell that ... Read More
  • PMM: Primary Mitochondrial Myopathy
    Primary mitochondrial myopathy, also known as PMM, is a group of genetic conditions with similar features that cause a variety of signs and symptoms in many parts of the body, particularly those that use a lot of energy, like muscles ... Read More
  • POLG-Related Disorders
    POLG-related disorders are a group of rare genetic conditions that affect the mitochondria. Mitochondria are the parts of a cell that help turn the energy we get from food into energy that the body can use. They are also important ... Read More
  • POLG2-Related Progressive External Ophthalmoplegia
    POLG2-related progressive external ophthalmoplegia, also known as POLG2-related CPEO or PEOA4, is a rare mitochondrial condition. Mitochondria are parts of a cell that help turn the energy we get from food into energy that the body can use. They are ... Read More
  • TK2d: Thymidine Kinase 2 Deficiency
    Thymidine Kinase 2 Deficiency, also known as TK2D, is a rare mitochondrial condition. TK2D causes at least one part of the body to have low levels of mitochondrial DNA (mtDNA). Conditions that cause low levels of mtDNA, including TK2D, are ... Read More

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