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Mol Genet Metab. 2011 Jun;103(2):193-6. doi: 10.1016/j.ymgme.2011.02.009. Epub 2011 Feb 22.

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

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1
Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Canada.

Abstract

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.

PMID:
21411353
DOI:
10.1016/j.ymgme.2011.02.009
[Indexed for MEDLINE]
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