Search
NADH dehydrogenase deficiency (complex 1 mitochondrial respiratory chain deficiency)
Epidemiology:
- most common cause of mitochondrial disorders
- 1/3 of all cases of respiratory chain deficiency
Pathology:
- deficiency of mitochondrial complex 1 (NADH dehydrogenase)
Genetics:
- associated with defects in mitochondrial complex 1 subunits: MT-ND3, MT-ND5, NDUFA1, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFV1, NDUFA11
- associated with defects in mimitin gene
Clinical manifestations:
- variety of clinical symptoms, 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
- some forms of parkinson disease
Laboratory:
- MT-ND5 gene mutation
Related
NADH dehydrogenase; respiratory chain complex-I; NADH CoQ reductase;NADH-ubiquinone oxidoreductase
General
enzyme deficiency
Database Correlations
OMIM 252010
References
OMIM :accession 252010