NADH Dehydrogenase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** A rare metabolic disorder characterized by the deficiency of mitochondrial NADH dehydrogenase component of complex I. Signs and symptoms include cardiomyopathy, encephalopathy, enlarged head, and progressive leukodystrophy.

**Synonyms:** - NADH Dehydrogenase (Ubiquinone) Deficiency - NADH-CoQ Reductase (Complex I) Deficiency