Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency
Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency
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DOI：
10.1016/j.jpba.2009.03.001
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发表时间：
2009-07-12
影响因子：
3.4
通讯作者：
Pasquini, E.
中科院分区：
文献类型：
--
作者：
Cavicchi, C.;Malvagia, S.;Pasquini, E.
在托斯卡纳通过LC-MS/MS进行的先天性代谢缺陷的扩大新生儿筛查项目中，169，000名新生儿中有6名表现出血液瓜氨酸水平降低。在其中一例中，OTC基因的分子分析鉴定出已知的p.Trp265Leu突变，该突变与晚发型鸟氨酸转氨甲酰酶缺乏症（OTCD）相关。低瓜氨酸血症不是OTCD新生儿筛查的可靠标志物，特别是对于可能表现出正常瓜氨酸水平的晚发型形式。然而，当在排除了肠功能障碍和早产的新生儿中检测到低瓜氨酸血症时，应首先研究OTCD，因为OTCD的发病率（1：14，000）和OTC基因编码序列的小尺寸。(C)2009爱思唯尔有限公司版权所有。
in an expanded newborn screening program for inborn errors of metabolism by LC-MS/MS in Tuscany, six newborns out of 169,000 showed decreased blood citrulline levels. in one of them, molecular analysis of the OTC gene identified the known p.Trp265Leu mutation, which is correlated with late-onset ornithine transcarbamylase deficiency (OTCD). Hypocitrullinemia is not a reliable marker for OTCD newborn screening, especially for late-onset forms that may exhibit normal citrulline levels. However, when hypocitrullinemia is detected in a newborn in whom intestinal dysfunction and prematurity have been excluded, OTCD should be investigated first because of the OTCD incidence (1: 14,000) and the small size of the OTC gene coding sequence. (C) 2009 Elsevier B.V. All rights reserved.