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Article

Mutational analysis of the GYS2 gene in patients diagnosed with ketotic hypoglycaemia.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2012

Nessa Azizun, Kumaran Anitha, Kirk Richard, Dalton Ann, Ismail Dunia, Hussain Khalid

Abstract excerpt

BACKGROUND: Ketotic hypoglycaemia is a common form of hypoglycaemia in childhood. Biochemically, patients present with fasting hypoglycaemia but with normal hormonal and metabolite profiles (low serum alanine levels in some patients). Glycogen Storage Disease Type 0 (GSD0) is an autosomal recessive disease due to mutations in the GYS2 gene. Patients with GSD0 also present with fasting ketotic hypoglycaemia. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23426827
DOI: 10.1515/jpem-2012-0165

Genes

GYS2

Variants

Provenance

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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