Screening for Menkes disease using the urine HVA/VMA ratio
Screening for Menkes disease using the urine HVA/VMA ratio
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DOI：
10.1007/s10545-005-5083-6
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发表时间：
2005-01-01
影响因子：
4.2
通讯作者：
Hamasaki, Y
中科院分区：
文献类型：
--
作者：
Matsuo, M;Tasaki, R;Hamasaki, Y
门克斯病是一种铜转运障碍，导致早死。早期使用肠外组氨酸铜治疗已被证明可显著改善结局。然而，早期诊断是困难的，因为患者在婴儿早期没有症状。在Menkes病中，多巴胺β-羟化酶（一种铜依赖性酶）的活性受损，导致高香草酸/香草基扁桃酸（HVA/VMA）的尿液比例增加。15例Menkes病患者的尿HVA/VMA比值范围为4.1至69.7，而对照组中仅0.18%的比值大于4.0。因此，尿HVA/VMA比值是一种有用的Menkes病筛查方法。
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.