MeSH Browser

MeSH Supplementary: Mitochondrial complex I deficiency
Unique ID: C537475
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537475
Entry Term(s): Mitochondrial NADH dehydrogenase component of complex I, deficiency of; NADH coenzyme q reductase deficiency; NADH:Q(1) Oxidoreductase deficiency; Nadh-Coenzyme Q Reductase Deficiency
Registry Number: 0
Heading Mapped to: *Mitochondrial Diseases; Electron Transport Complex I / *deficiency
Frequency: 106
Note: 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 of Entry: 2010/08/25
Revision Date: 2019/03/25

Mitochondrial complex I deficiency MeSH Supplementary Concept Data 2024