Article
Screening for Menkes disease using the urine HVA/VMA ratio.
Journal of inherited metabolic disease - 1 Jan 2005
Matsuo M, Tasaki R, Kodama H, Hamasaki Y
Abstract excerpt
Menkes disease is a disorder of copper transport that results in early death. Early therapy with parenteral copper-histidine has been shown to markedly improve outcomes. However, early diagnosis is difficult because patients are asymptomatic in early infancy. In Menkes disease, impaired activity of dopamine beta-hydroxylase, a copper-dependent enzyme, leads to increased urine ratios of homovanillic...
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