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Article

Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.

Human mutation - 1 Jun 2017

Bravo-Alonso Irene, Navarrete Rosa, Arribas-Carreira Laura, Perona Almudena, Abia David, Couce María Luz, García-Cazorla Angels, Morais Ana, Domingo Rosario, Ramos María Antonia, Swanson Michael A, Van Hove Johan L K, Ugarte Magdalena, Pérez Belén, Pérez-Cerdá Celia, Rodríguez-Pombo Pilar

Abstract excerpt

The rapid analysis of genomic data is providing effective mutational confirmation in patients with clinical and biochemical hallmarks of a specific disease. This is the case for nonketotic hyperglycinemia (NKH), a Mendelian disorder causing seizures in neonates and early-infants, primarily due to mutations in the GLDC gene. However, understanding the impact of missense variants identified in this gene is a major...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28244183
DOI: 10.1002/humu.23208

Genes

GLDC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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