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Neuropediatrics 2012; 43(03): 164-167
DOI: 10.1055/s-0032-1313914
Short Communication
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

A Known and a Novel Mutation in the Glycine Decarboxylase Gene in a Newborn with Classic Nonketotic Hyperglycinemia

P. Beijer
1   Department of Neonatology, Wilhelmina Children's Hospital, University Medical Centre Utrecht, The Netherlands
,
K.D. Lichtenbelt
2   Department of Medical Genetics, Wilhelmina Children's Hospital, Utrecht, The Netherlands
,
F.C. Hofstede
3   Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Centre Utrecht Utrecht, The Netherlands
,
P.G.J Nikkels
4   Department of Pathology, University Medical Center Utrecht, The Netherlands
,
P. Lemmers
1   Department of Neonatology, Wilhelmina Children's Hospital, University Medical Centre Utrecht, The Netherlands
,
L.S. de Vries
1   Department of Neonatology, Wilhelmina Children's Hospital, University Medical Centre Utrecht, The Netherlands
› Author Affiliations
Further Information

Publication History

13 November 2011

20 March 2012

Publication Date:
19 May 2012 (online)

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Abstract

A term neonate displayed typical features of nonketotic hyperglycinemia (NKH). Conventional magnetic resonance imaging showed corpus callosum hypoplasia and increased signal intensity of the white matter. Magnetic resonance proton spectroscopy revealed high cerebral glycine levels. The liquor/plasma glycine ratio was increased. Genetic testing detected a known and a novel mutation in the glycine decarboxylase gene, leading to the classic form of glycine encephalopathy. Prenatal genetic testing in the subsequent pregnancy showed that this fetus was not affected. As features of neonatal NKH may not be very specific, recognition of the disease may be difficult. An overview of clinical, electroencephalography, and neuroimaging findings is given in this article.

Keywords

newborn - nonketotic hyperglycinemia - mutation
 

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