Below is a list of the different types of mitochondrial diseases. Please visit the Mitochondrial diseases (Group of Conditions) page for more information on this group of conditions.

Click on the links in red, if available, for further information on a specific mitochondrial disease. More of these individual diseases will be developed over time.

This may not cover all existing mitochondrial diseases.

• Autosomal dominant optic atrophy (ADOA)
• Alpers syndrome
• Aminoglycoside-induced deafness
• Ataxia neuropathy syndrome (ANS)
• Barth syndrome (BTHS)
• Beta-oxidation defect
• Carnitine uptake deficiency
• Carnitine acylcarnitine translocase (CACT) 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)
• Carnitine palmitoyltransferase I (CPT I) deficiency
• Carnitine palmitoyltransferase II (CPT II) deficiency
• Creatine deficiency syndromes
• Growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, early death (GRACILE)
• Kearns-Sayre syndrome (KSS)
• Lactic acidosis
• Leukodystrophy
• 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
• PPA2 deficiency
• 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)