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Article

Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.

Journal of medical genetics - 1 Mar 2007

Kanno Junko, Hutchin Tim, Kamada Fumiaki, Narisawa Ayumi, Aoki Yoko, Matsubara Yoichi, Kure Shigeo

Abstract excerpt

BACKGROUND: Non-ketotic hyperglycinaemia (NKH) is an inborn error of metabolism characterised by accumulation of glycine in body fluids and various neurological symptoms. NKH is caused by deficiency of the glycine cleavage multienzyme system with three specific components encoded by GLDC, AMT and GCSH. Most patients are deficient of the enzymatic activity of glycine decarboxylase, which is encoded by GLDC. Our...

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Source

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Identifiers

PMID: 17361008
DOI: 10.1136/jmg.2006.043448
PMCID: PMC2598024

Genes

GLDC
AMT
GCSH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.PMID 17361008Read ↗

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.Semantic proximity Read ↗

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[Clinical and genetic analyses of a family with atypical nonketotic hyperglycinemia caused by compound heterozygous mutations in the GLDC gene].Semantic proximity Read ↗

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The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.Semantic proximity Read ↗

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