Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022716 (Menkes)
 1,057 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with Menkes Kinky Hair disease was treated with infusions of copper-histidine which resulted in normal copper values in the cerebrospinal fluid. This tends to confirm the in vitro data that copper is transported into the central nervous system complexed with histidine or other similar ligands.
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PMID:Correction of cerebrospinal fluid copper in Menkes kinky hair disease. 193 Apr 26

Mutated Brindled mice have a genetic defect homologous to the human disorder Menkes' or Kinky Hair disease. These animals were used to survey the tissues in which copper accumulates as result of this defect. Heterozygous and unaffected animals were i.p. injected with radio-copper (64Cu). Sites of pathological 64Cu accumulation were visualized by whole body autoradiography. Apart from the tissues already known to accumulate copper, particularly the kidneys, pathological accumulations were also found in a number of other tissues. It is concluded that in Menkes' disease copper accumulates in epithelioid cells.
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PMID:Autoradiographic demonstration of the copper-accumulating tissues in mice with a defect homologous to Menkes' Kinky Hair disease. 641 34