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Mitochondrial complex I deficiency MeSH Supplementary Concept Data 2022


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
89
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 Preferred
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