Summary
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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Matsuo, M., Tasaki, R., Kodama, H. et al. Screening for Menkes disease using the urine HVA/VMA ratio. J Inherit Metab Dis 28, 89–93 (2005). https://doi.org/10.1007/s10545-005-5083-6
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DOI: https://doi.org/10.1007/s10545-005-5083-6