List of Mitochondrial Diseases

The page has been co-developed with Mito Foundation.

Below is a list of mitochondrial diseases. Please visit the main Mitochondrial Diseases page on the RARE Portal and Mito Foundation for more information on this group of conditions.

Click on the link(s) in red, if available, for further information on a specific mitochondrial disease. More of these individual pages will be developed in time.

This may not cover all existing mitochondrial diseases. As research learns more about mitochondrial diseases, the list of different types continues to grow. If you know of any mitochondrial diseases that is not on the list, or are aware of any broken links or inaccurate information, please let us know via the Contribute Page.

Autosomal Dominant Optic Atrophy (ADOA)
Alpers Syndrome
Aminoglycoside-Induced Deafness
Ataxia Neuropathy Syndrome (ANS)
Barth Syndrome (BTHS)
Beta-Oxidation Defect
Carnitine Deficiency
Carnitine-Acylcarnitine Deficiency
Co-Enzyme Q10 Deficiency
Complex I Deficiency
Complex II Deficiency
Complex III Deficiency
Complex IV Deficiency / Cox Deficiency
Complex V Deficiency
Chronic Progressive External Ophthalmoplegia (CPEO)
Chronic Progressive External Ophthalmoplegia Plus (CPEO PLUS)
CPT I Deficiency
CPT II Deficiency
Creatine Deficiency Syndromes
Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis, Early Death (GRACILE)
Kearns-Sayre Syndrome (KSS)
Lactic Acidosis
Leukodystrophy (LBSL)
Long-Chain Acyl-Coa Dehydrogenase Deficiency (LCAD)
Leigh Syndrome
Leber’s Hereditary Optic Neuropathy (LHON)
Lethal Infantile Cardiomyopathy (LIC)
Luft Disease
Multiple Acyl-Coa Dehydrogenase Deficiency / Glutaric Aciduria Type Ii (MAD)
Medium-Chain Acyl-Coa Dehydrogenase Deficiency (MCAD)
3-Methylglutaconic Aciduria, Deafness, Encephalopathy and Leigh-Like Disease (MEGDEL)
Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS)
Myoclonic Epilepsy with Ragged-Red Fibres (MERRF)
Maternally Inherited Diabetes and Deafness (MIDD)
Miller Syndrome
Mitochondrial Cardiomyopathy
Mitochondrial Cytopathy
Mitochondrial Deafness
Mitochondrial DNA Depletion
Mitochondrial Encephalopathy
Mitochondrial Hepatopathy
Mitochondrial Myopathy
Mitochondrial Neuropathy
Mitochondrial Sensory Ataxia, Neuropathy, Epilepsy
Mitochondrial Neuro-Gastrointestinal Encephalopathy (MNIGE)
Neuropathy, Ataxia and Retinitis Pigmentosa (NARP)
Pearson’s Syndrome
POLG Mutation/Disease
Pyruvate Carboxylase Deficiency Pyruvate Dehydrogenase Deficiency
Sensory Ataxic Neuropathy with Dysarthria/Dysphagia and Ophthalmoplegia (SANDO)
Short-Chain Acyl-Coa Dehydrogenase Deficiency (SCAD)
Very Long-Chain Acyl-Coa Dehydrogenase Deficiency (VLCAD)