Abnormal Features of the Metabolism and Cellular Biology of Copper in Menkes Disease
Menkes disease was described for the first time in 1962 by J.H. Menkes (1). This is an X-linked recessive disorder affecting copper metabolism. This disease appears as a convulsive encephalopathy, the main clinical manifestations being a neurological degeneration, a mental retardation, a convulsive state and “kinky” depigmented hairs. A fatal issue commonly occurs before the age of five. Some biological parameters are significantly modified: serum copper and ceruloplasmin levels are dramatically decreased. Cellular uptake and retention of copper are abnormally increased in enterocytes, lymphoblasts and fibroblasts. The exon structure of the Menkes gene has been recently determined. This gene encodes a predicted copper binding P-type ATPase (2–4).
KeywordsChorionic Villus Wilson Disease Copper Metabolism Antenatal Diagnosis Menkes Disease
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