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

More general terms

• enzyme deficiency

Additional terms

• NADH dehydrogenase; respiratory chain complex-I; NADH CoQ reductase;NADH-ubiquinone oxidoreductase

Database

• OMIM: https://mirror.omim.org/entry/252010