Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment.
The son of third cousins was normal until age 2 when he had difficulty walking. At age 8 there was limb weakness, ataxia, loss of tendon reflexes, dislalia, and he was mildly retarded. During fasting, urinary organic acid excretion was abnormally high. Cytochrome c oxidase activity in muscle was 7% of the normal mean. The enzyme in platelets was 16% of controls with a decreased cytochrome aa3 peak. These data suggest an autosomal recessive transmission of this variant of cytochrome c oxidase deficiency.
D001259:Ataxia / Q000175:diagnosis / Q000378:metabolism; D001927:Brain Diseases / Q000175:diagnosis* / Q000201:enzymology; D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000201:enzymology; D002648:Child; D030401:Cytochrome-c Oxidase Deficiency; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000378:metabolism; D008297:Male; D009135:Muscular Diseases / Q000175:diagnosis / Q000201:enzymology; D009468:Neuromuscular Diseases / Q000175:diagnosis* / Q000201:enzymology