Standard values for the urine HVA/VMA ratio in neonates as a screen for Menkes disease
Standard values for the urine HVA/VMA ratio in neonates as a screen for Menkes disease
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DOI：
10.1016/j.braindev.2014.01.014
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发表时间：
2015-01-01
影响因子：
1.7
通讯作者：
Iijima, Kazumoto
中科院分区：
文献类型：
--
作者：
Lee, Tomoko;Yagi, Mariko;Iijima, Kazumoto
背景：门克斯病是一种与铜代谢相关的致死性疾病。虽然早期用铜组氨酸注射治疗可以改善预后，但早期诊断是困难的，因为门克斯病的临床特征是微妙的或在受影响的新生儿中不表现出来。先前的报告指出，多巴胺对羟化酶（一种铜依赖酶）的低活性导致Menkes病患者尿中同型香草酸/香草酸（HVA/VMA）比值升高，并表明尿液HVA/VMA比值临界值bbbb4可用于Menkes病的筛查。方法：我们检查了未受影响新生儿尿液HVA/VMA比值的标准值，并评估其作为新生儿门克斯病筛查参数的用途。研究共纳入112名1 ~ 6天的新生儿，根据其尿液HVA/VMA比值分为高（bbbb4）和低（bbbb4）两组。
Background: Menkes disease is a lethal disorder associated with copper metabolism. Although early treatment with copper-histidine injections can improve outcomes, early diagnosis is difficult because the clinical features of Menkes disease are subtle or do not manifest in affected neonates. Previous report stated that the low activity of dopamine P-hydroxylase, a copper-dependent enzyme, leads to increases in the urine homovanillic acid/vanillylmandelic acid (HVA/VMA) ratios in patients with Menkes disease, and indicated that a urine HVA/VMA ratio cut-off value of >4 is useful in screening for Menkes disease. Methods: We examined the standard values of the urine HVA/VMA ratio in unaffected neonates and assessed its use as a screening parameter for Menkes disease among neonates. In total, 112 neonates, aged between 1 and 6 days, were enrolled in the study and were classified into 2 groups based on their urine HVA/VMA ratios: high (>4) and low (