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Article

Detection of mutations in the glycine decarboxylase gene in patients with nonketotic hyperglycinaemia.

Molecular genetics and metabolism - 1 Feb 2005

Sellner Loryn, Edkins Edward, Greed Lawrence, Lewis Barry

Abstract excerpt

Nonketotic hyperglycinaemia (NKH) is an autosomal recessive disorder of glycine metabolism caused by a deficiency in the mitochondrial glycine cleavage enzyme. The majority of cases are caused by mutations in the P-protein, one of the four components of the glycine cleavage enzyme, also known as glycine decarboxylase (GLDC). Previous studies searching for causative mutations in NKH patients have only looked for a...

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Identifiers

PMID: 15670722
DOI: 10.1016/j.ymgme.2004.10.001

Genes

GLDC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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