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Screening for Menkes disease using the urine HVA/VMA ratio
Author(s) -
Matsuo M.,
Tasaki R.,
Kodama H.,
Hamasaki Y.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-5083-6
Subject(s) - menkes disease , vanillylmandelic acid , homovanillic acid , urine , endocrinology , medicine , asymptomatic , chemistry , copper metabolism , copper , receptor , organic chemistry , serotonin
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.