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Mitochondrial complex I deficiency MeSH Supplementary Concept Data 2022

MeSH Supplementary
Mitochondrial complex I deficiency
Unique ID
RDF Unique Identifier
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
Heading Mapped to
*Mitochondrial Diseases
Electron Transport Complex I / *deficiency
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
Revision Date
Mitochondrial complex I deficiency Preferred
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