Disease - Mitochondrial complex I deficiency, nuclear type 1
Definition
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.
Acronym
MC1DN1
Synonyms
Complex I mitochondrial respiratory chain deficiency
Deficiency of mitochondrial NADH dehydrogenase component of complex I
Mitochondrial complex I deficiency
NADH:Q(1) oxidoreductase deficiency
NADH:Ubiquinone oxidoreductase deficiency
NADH-Coenzyme Q reductase deficiency
Deficiency of mitochondrial NADH dehydrogenase component of complex I
Mitochondrial complex I deficiency
NADH:Q(1) oxidoreductase deficiency
NADH:Ubiquinone oxidoreductase deficiency
NADH-Coenzyme Q reductase deficiency
Keywords
Disclaimer
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