Journal of Inherited Metabolic Disease

, Volume 28, Issue 1, pp 89–93

Screening for Menkes disease using the urine HVA/VMA ratio


DOI: 10.1007/s10545-005-5083-6

Cite this article as:
Matsuo, M., Tasaki, R., Kodama, H. et al. J Inherit Metab Dis (2005) 28: 89. doi:10.1007/s10545-005-5083-6


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.

Copyright information

© SSIEM and Springer 2005

Authors and Affiliations

  1. 1.Department of Pediatrics, Faculty of MedicineSaga UniversitySagaJapan
  2. 2.The Chemo-Sero-Therapeutic Research InstituteClinical Laboratory CenterKumamoto
  3. 3.Department of PediatricsTokyo University School of MedicineTokyoJapan