- Genetic Alliance UK /
- Mitochondrial diseases in scope
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