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Article

Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.

Journal of inherited metabolic disease - 1 Feb 2006

Conter C, Rolland M O, Cheillan D, Bonnet V, Maire I, Froissart R

Abstract excerpt

Glycine encephalopathy, or nonketotic hyperglycinaemia (NKH; Mckusick 238300) is a severe autosomal recessive disease due to a defect in the glycine cleavage system (GCS), which is a complex of four subunits: P-, T-, H- and L-proteins. A P-protein (glycine decarboxylase or GLDC) deficiency was reported in about 80% of NKH patients. We performed mutation analysis of the complete coding sequence of the GLDC gene in...

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Source

Identifiers

PMID: 16601880
DOI: 10.1007/s10545-006-0202-6

Genes

GLDC

Variants

Provenance

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