Screening for Menkes disease using the urine HVA/VMA ratio.
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.
Matsuo
M
M
Department of Pediatrics, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, 849-8501, Saga, Japan. matsuo@post.saga-med.ac.jp
Tasaki
R
R
Kodama
H
H
Hamasaki
Y
Y
D000483:Alleles; D002851:Chromatography, High Pressure Liquid; D003300:Copper / Q000378:metabolism; D004299:Dopamine beta-Hydroxylase / Q000378:metabolism; D004305:Dose-Response Relationship, Drug; D006639:Histidine / Q000378:metabolism; D006719:Homovanillic Acid / Q000652:urine*; D006801:Humans; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis* / Q000652:urine*; D010865:Pilot Projects; D013997:Time Factors; D014642:Vanilmandelic Acid / Q000652:urine*
D006639:Histidine; D014642:Vanilmandelic Acid; D003300:Copper; D004299:Dopamine beta-Hydroxylase; D006719:Homovanillic Acid