Cytochrome c oxidase deficiency in Menkes kinky hair disease.
In a 4-year-old male with Menkes kinky hair disease (MKHD) treated with copper supplement therapy, reduced cytochrome a + a3 contents in liver was demonstrated to be 0.029 against 0.128 nmol/mg protein in the control. Cytochrome c oxidase activities in brain, liver, skeletal muscle, and heart were 47, 22, 54 and 59% of the control, respectively. The copper contents in brain and liver were decreased. In spite of increased serum levels of copper and ceruloplasmin, the decreased cytochrome c oxidase activities in various organs were not corrected by copper supplement therapy. A search for a therapeutic method which can normalize copper enzymes in brain and liver, would seem to be a prerequisite for the treatment of MKHD.
D001921:Brain / Q000201:enzymology; D001928:Brain Diseases, Metabolic / Q000201:enzymology*; D002570:Ceruloplasmin / Q000032:analysis; D003300:Copper / Q000032:analysis; D030401:Cytochrome-c Oxidase Deficiency; D003580:Cytochromes / Q000032:analysis; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000201:enzymology* / Q000378:metabolism; D008930:Mitochondria, Liver / Q000201:enzymology; D014018:Tissue Distribution
D003580:Cytochromes; D003300:Copper; D002570:Ceruloplasmin