Mitochondrial complex I deficiency [Supplementary Concept]
The most common hereditary enzymatic defect of the OXIDATIVE PHOSPHORYLATION disorders that is linked to numerous diseases that can appear at any stage of life from birth through old age. These include MACROCEPHALY with progressive leukodystrophy, nonspecific encephalopathy, HYPERTROPHIC CARDIOMYOPATHY; MYOPATHY; LIVER DISEASES; LEIGH DISEASE; LEBER HEREDITARY OPTIC NEUROPATHY, and some cases of PARKINSON DISEASE. Mutations in both mitochondrial and nuclear genes for the components of NADH-ubiquinone reductase have been identified. OMIM: 252010
Date introduced: August 25, 2010
MeSH Unique ID: C537475
Heading Mapped to:
Entry Terms:
- Nadh-Coenzyme Q Reductase Deficiency
- NADH coenzyme q reductase deficiency
- NADH:Q(1) Oxidoreductase deficiency
- Mitochondrial NADH dehydrogenase component of complex I, deficiency of