Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia
- 24 October 2002
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 52 (5) , 643-646
- https://doi.org/10.1002/ana.10367
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.Keywords
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