The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

doi:10.1038/gim.2016.74

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Article

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2017

Coughlin Curtis R, Swanson Michael A, Kronquist Kathryn, Acquaviva Cécile, Hutchin Tim, Rodríguez-Pombo Pilar, Väisänen Marja-Leena, Spector Elaine, Creadon-Swindell Geralyn, Brás-Goldberg Ana M, Rahikkala Elisa, Moilanen Jukka S, Mahieu Vincent, Matthijs Gert, Bravo-Alonso Irene, Pérez-Cerdá Celia, Ugarte Magdalena, Vianey-Saban Christine, Scharer Gunter H, Van Hove Johan L K

Abstract excerpt

PURPOSE: The study's purpose was to delineate the genetic mutations that cause classic nonketotic hyperglycinemia (NKH). METHODS: Genetic results, parental phase, ethnic origin, and gender data were collected from subjects suspected to have classic NKH. Mutations were compared with those in the existing literature and to the population frequency from the Exome Aggregation Consortium (ExAC) database. RESULTS: In...

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Identifiers

PMID: 27362913
DOI: 10.1038/gim.2016.74

Genes

GLDC
AMT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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