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Ann Neurol. 2002 Nov;52(5):643-6.

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.

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1
Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryomachi, Aobaku, Sendai 980-8574, Japan. skure@mail.cc.tohoku.ac.jp

Abstract

Transient neonatal hyperglycinemia is clinically or biochemically indistinguishable from nonketotic hyperglycinemia at onset. In the case of transient neonatal hyperglycinemia, the elevated plasma and cerebrospinal fluid glycine levels are normalized within 2 to 8 weeks. To elucidate the pathogenesis of transient neonatal hyperglycinemia, we studied three patients by screening mutations in the genes that encode three components of the glycine cleavage system. Heterozygous mutations were identified in all of the three patients, suggesting that transient neonatal hyperglycinemia develops in some heterozygous carriers for nonketotic hyperglycinemia.

PMID:
12402263
DOI:
10.1002/ana.10367
[Indexed for MEDLINE]
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