Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia:: Identification by expanded newborn screening

被引：30

作者：

Marble, Michael ^{[1
]}

Copeland, Sara ^{[2
]}

Khanpar, Nashat

Rosenblatt, David S. ^{[3
,4
]}

机构：

[1] Louisiana State Univ, Childrens Hosp New Orleans, Hlth Sci Ctr, Div Clin Genet, New Orleans, LA USA

[2] Univ Iowa, Childrens Hosp, Div Med Genet, Iowa City, IA USA

[3] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

[4] McGill Univ, Dept Med & Pediat, Montreal, PQ, Canada

来源：

JOURNAL OF PEDIATRICS | 2008年 / 152卷 / 05期

关键词：

D O I：

10.1016/j.jpeds.2008.01.023

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A neonate with elevated propionylearnitine on the newborn screen was found to have methvlmalonic acidemia due to vitamin B-12-deficiency. The mother was also vitamin B,,-deficient. This case illustrates the utility of expanded newborn screening for detection of vitamin B,, deficiency, allowing prompt treatment and prevention of potential sequelae.

引用

页码：731 / 733

页数：3

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