This Mitochondrial Diseases Priority Setting Partnership focuses on ‘primary’ mitochondrial diseases. A non-exhaustive list of some of the diseases covered can be found here:

• ADOA (Autosomal Dominant Optic Atrophy)
• Alpers-Huttenlocher
• Ataxia Neuropathy
• Coenzyme Q10 Deficiency
• CPEO (Chronic Progressive External Ophthalmoplegia)
• GRACILE (Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis, and Early death)
• KSS (Kearns-Sayre Syndrome)
• Leigh Syndrome
• LHON (Leber’s Hereditary Optic Neuropathy)
• MDDS (Mitochondrial DNA Depletion Syndrome)
• MEGDEL (3-methylglutaconic aciduria (MEG), Deafness (D), Encephalopathy (E), and Leigh-like disease (L).
• MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and stroke-like episodes)
• MERRF (Myoclonic Epilepsy with Ragged-red Fibers)
• MIDD (Maternally Inherited Diabetes-Deafness Syndrome)
• MIRAS (Mitochondrial Recessive Ataxia Syndrome)
• MNGIE (Mitochondrial NeuroGastrointestinal Encephalopathy Syndrome)
• NARP (Neuropathy, Ataxia, and Retinitis Pigmentosa)
• PDH (Pyruvate Dehydrogenase Deficiency)
• Pearson’s Syndrome
• Single large-scale mtDNA deletions
• SANDO (Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis)
• Sengers Syndrome