Menkes kinky hair syndrome: Is it a treatable disorder?
A male infant with Menkes Kinky Hair Syndrome was treated with a 3-week course of cupric acetate infusions, which was terminated when he developed aminoaciduria. The lack of improvement seen in this infant is representative of the reported experience with parenteral copper therapy in this condition, and may be attributable to the presence of a clinically significant abnormality in copper metabolism in utero.
D000284:Administration, Oral; D001928:Brain Diseases, Metabolic / Q000188:drug therapy*; D002570:Ceruloplasmin / Q000032:analysis; D002675:Child, Preschool; D003300:Copper / Q000009:adverse effects / Q000378:metabolism / Q000627:therapeutic use*; D003576:Electron Transport Complex IV / Q000097:blood; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007275:Injections, Intravenous; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000188:drug therapy*; D008995:Monoamine Oxidase / Q000097:blood; D000608:Renal Aminoacidurias / Q000139:chemically induced; D013997:Time Factors
D003300:Copper; D002570:Ceruloplasmin; D008995:Monoamine Oxidase; D003576:Electron Transport Complex IV