Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene

被引：24

作者：

Brunel-Guitton, Catherine ^{[1
]}

Casey, Brett ^{[2
]}

Coulter-Mackie, Marion ^{[1
]}

Vallance, Hilary ^{[3
]}

Hewes, Deborah ^{[4
]}

Stockler-Ipsiroglu, Sylvia ^{[1
]}

Mercimek-Mahmutoglu, Saadet ^{[1
]}

机构：

[1] Univ British Columbia, Dept Pediat, Div Biochem Dis, Vancouver, BC V6H 3V4, Canada

[2] Univ British Columbia, Dept Pathol, Mol Genet Lab, Vancouver, BC V6H 3V4, Canada

[3] Univ British Columbia, Dept Pathol, Biochem Genet Lab, Vancouver, BC V6H 3V4, Canada

[4] Abbotsford Childrens Hosp, Vancouver, BC, Canada

来源：

MOLECULAR GENETICS AND METABOLISM | 2011年 / 103卷 / 02期

关键词：

Atypical nonketotic hyperglycinemia; NKH; Late-onset NKH; Mild glycine encephalopathy; Glycine cleavage system; GLDC mutations; P protein; GLYCINE CLEAVAGE SYSTEM; CEREBROSPINAL-FLUID; ENCEPHALOPATHY; PROTEIN; TRANSIENT;

D O I：

10.1016/j.ymgme.2011.02.009

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Nonketotic hyperglycinemia (NKH) is an inborn error of the glycine metabolism. A 9-year-old boy with learning disability and intermittent choreoathetosis during febrile illnesses had elevated plasma glycine level and CSF/plasma glycine ratio (0.044) and a novel homozygous missense mutation (c.605C>T: p.Ala202Val) in the GLDC gene, confirming the diagnosis of NKH. This is the first report of late-onset NKH with a confirmed underlying genetic defect. NKH should be in the differential diagnosis of intermittent choreoathetosis. Crown Copyright (C) 2011 Published by Elsevier Inc. All rights reserved.

引用

页码：193 / 196

页数：4

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