Mitochondrial encephalomyopathy. Association with an NADH dehydrogenase deficiency.
A 17-year-old patient had a progressive hypokinetic-rigid syndrome and several other signs and symptoms that indicated central nervous system involvement. Biochemical studies revealed a reduced form of nicotinamide-adenine dinucleotide dehydrogenase deficiency in skeletal muscle. Clinical signs and symptoms, and their association with an established defect of energy metabolism, led us to classify this disorder as a mitochondrial encephalomyopathy of Leigh's type.
D000293:Adolescent; D001928:Brain Diseases, Metabolic / Q000201:enzymology*; D003579:Cytochrome Reductases / Q000172:deficiency*; D004734:Energy Metabolism; D006801:Humans; D007888:Leigh Disease / Q000201:enzymology* / Q000503:physiopathology; D008297:Male; D008931:Mitochondria, Muscle / Q000201:enzymology*; D009135:Muscular Diseases / Q000201:enzymology* / Q000503:physiopathology; D009245:NADH Dehydrogenase / Q000172:deficiency*
D003579:Cytochrome Reductases; D009245:NADH Dehydrogenase