RESUMO
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.
Assuntos
Ácido Homovanílico/urina , Síndrome dos Cabelos Torcidos/diagnóstico , Síndrome dos Cabelos Torcidos/urina , Ácido Vanilmandélico/urina , Alelos , Cromatografia Líquida de Alta Pressão , Cobre/metabolismo , Dopamina beta-Hidroxilase/metabolismo , Relação Dose-Resposta a Droga , Histidina/metabolismo , Humanos , Projetos Piloto , Fatores de TempoRESUMO
We evaluated the clinical significance of measurement of urinary neopterin levels in primary immunodeficiencies and persistent infections exclusively at afebrile or asymptomatic periods. Despite the examinations at afebrile or asymptomatic periods, urinary neopterin levels were elevated in some patients with primary immunodeficiencies and in patients with persistent infections of human immunodeficiency virus (HIV) or Epstein-Barr virus (EBV). Therefore, urinary neopterin measurement at afebrile periods will be useful as one of the screening tests in the detection of such disorders among children with occasional episodes of infections.