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Article

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.

Human mutation - 1 Apr 2006

Kure Shigeo, Kato Kumi, Dinopoulos Agirios, Gail Chuck, DeGrauw Ton J, Christodoulou John, Bzduch Vladimir, Kalmanchey Rozalia, Fekete Gyorgy, Trojovsky Alex, Plecko Barbara, Breningstall Galen, Tohyama Jun, Aoki Yoko, Matsubara Yoichi

Abstract excerpt

Nonketotic hyperglycinemia (NKH) is an inborn error of metabolism characterized by accumulation of glycine in body fluids and various neurological symptoms. NKH is caused by deficiency of the glycine cleavage multi-enzyme system with three specific components encoded by GLDC, AMT, and GCSH. We un...

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Source

Identifiers

PMID: 16450403
DOI: 10.1002/humu.20293

Genes

GLDC
AMT
GCSH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16450403-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.PMID 16450403Read ↗

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