title: Atypical form of Menkes kinky hair disease with mitochondrial NADH-CoQ reductase deficiency.
abstract: A male infant with an atypical form of Menkes kinky hair disease showed mitochondrial NADH-CoQ reductase (complex I) deficiency in a femoris muscle biopsy. His clinical features consisted of hypotonicity of the upper limbs, hyper-reflexia of the lower extremities, abnormal hair and fine myoclonic movement of the hands. The serum levels of copper and ceruloplasmin were just below normal range, and the copper concentration in fibroblastic cells was much increased (101.2 ng/mg of protein). The occurrence of this case suggests that there may be a mild form of Menkes disease with a NADH-CoQ reductase deficiency or other mitochondrial enzyme defects.
mesh_terms: D001284:Atrophy; D001921:Brain / Q000000981:diagnostic imaging; D001928:Brain Diseases, Metabolic / Q000150:complications*; D002531:Cerebellum / Q000000981:diagnostic imaging; D002658:Developmental Disabilities / Q000209:etiology; D004569:Electroencephalography; D004827:Epilepsy / Q000209:etiology / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000097:blood / Q000150:complications* / Q000503:physiopathology; D008928:Mitochondria / Q000201:enzymology*; D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases / Q000172:deficiency*; D011859:Radiography
chemical_list: D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases