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J Inherit Metab Dis. 2005;28(1):89-93.

Screening for Menkes disease using the urine HVA/VMA ratio.

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1
Department of Pediatrics, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, 849-8501, Saga, Japan. matsuo@post.saga-med.ac.jp

Abstract

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 acid/vanillylmandelic acid (HVA/VMA). Urine HVA/VMA ratios ranged from 4.1 to 69.7 among 15 patients with Menkes disease, whereas only 0.18% of controls had ratios greater than 4.0. Thus, the urine HVA/VMA ratio is a useful screening method for Menkes disease.

PMID:
15702409
DOI:
10.1007/s10545-005-5083-6
[Indexed for MEDLINE]
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