Alpers Disease (Progressive Infantile Poliodystrophy); Barth syndrome (Cardiomyopathy-Neutropenia Syndrome) / Lethal Infantile Cardiomyopathy (LIC); Beta-oxidation Defects; Carnitine Deficiency and Disorders; Chronic Progressive External Ophthalmoplegia Syndrome (CPEO); Kearns-Sayre Syndrome (KSS); Lactic Acidosis; Leber Hereditary Optic Neuropathy (LHON); Leigh Disease (Subacute Necrotizing Encephalomyelopathy); Long-Chain Acyl-CoA Dehydrogenase (LCAD) Deficiency; Luft Disease; Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency; Mitochondrial Cytopathy; Mitochondrial Encephalomyopathy Lactic Acidosis and Strokelike Episodes (MELAS); Mitochondrial Encephalopathy; Mitochondrial Myopathy; Multiple Acyl-CoA Dehydrogenase (MAD) Deficiency / Glutaric Aciduria Type II; Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); Myoneurogastointestinal Disorder and Encephalopathy (MNGIE); Neuropathy Ataxia and Retinitis Pigmentosa (NARP); Pearson Syndrome; Pyruvate Carboxylase Deficiency; Pyruvate Dehydrogenase Deficiency (PHD); Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
Respiratory Chain Disorders: Complex I: NADH dehydrogenase (NADH-CoQ reductase) deficiency, Complex II: Succinate dehydrogenase deficiency, Complex III: Ubiquinone-cytochrome c oxidoreductase deficiency, Complex IV: Cytochrome c oxidase (COX) deficiency, Complex V: ATP synthase deficiency
Glossary:
Mitochondrial and Metabolic Diseases,
(.pdf) Mitochondrial and Metabolic Disease Center, University of California
San Diego
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