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 pedigree of Menkes' kinky hair disease (MKHD) is reported. One patient of this family who underwent copper treatment was followed for three years with fundus examinations and ERG measurement. The blood copper level remained normal after six months of age, when intravenous treatment was switched from cupric acetate to cupric sulfate. Optic nerve atrophy and decrease in amplitude of the ERG were observed at three years of age. In an experiment using mouse models of MKHD (macular mouse mutant, Moml), we compared the affected mice that received copper treatment with normal mice. However, there was no difference between them in ERG responses, number of ganglion cells, or thickness of retinal layers. These results support the possibility of prolonged survival and maintained vision in the patients of MKHD by earlier normalization of the copper level.
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PMID:Menkes' kinky hair disease: clinical and experimental study. 404 23