Screening for Menkes disease using the urine HVA/VMA ratio
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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 β-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.
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- Screening for Menkes disease using the urine HVA/VMA ratio
Journal of Inherited Metabolic Disease
Volume 28, Issue 1 , pp 89-93
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- 1. Department of Pediatrics, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, 849-8501, Saga, Japan
- 2. The Chemo-Sero-Therapeutic Research Institute, Clinical Laboratory Center, Kumamoto
- 3. Department of Pediatrics, Tokyo University School of Medicine, Tokyo, Japan