List of Mitochondrial Diseases

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)