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Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia.

Genetics research - 1 Jan 2022

Abdul Wahab Siti Aishah, Yakob Yusnita, Mohd Khalid Mohd Khairul Nizam, Ali Noraishah, Leong Huey Yin, Ngu Lock Hock

Abstract excerpt

Background: Glycogen storage disease type 1a (GSD1a) is a rare autosomal recessive metabolic disorder characterized by hypoglycaemia, growth retardation, lactic acidosis, hepatomegaly, hyperlipidemia, and nephromegaly. GSD1a is caused by a mutation in the G6PC gene encoding glucose-6-phosphatase (G6Pase); an enzyme that catalyses the hydrolysis of glucose-6-phosphate (G6P) to phosphate and glucose. Objective: To...

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Identifiers

PMID: 36160031
DOI: 10.1155/2022/5870092
PMCID: PMC9489408

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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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