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Article

Glucose-6-phosphatase deficiency.

Orphanet journal of rare diseases - 20 May 2011

Froissart Roseline, Piraud Monique, Boudjemline Alix Mollet, Vianey-Saban Christine, Petit François, Hubert-Buron Aurélie, Eberschweiler Pascale Trioche, Gajdos Vincent, Labrune Philippe

Abstract excerpt

Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Prevalence is unknown and annual incidence is around 1/100,000 births. GSDIa is the more frequent type,...

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Identifiers

PMID: 21599942
DOI: 10.1186/1750-1172-6-27
PMCID: PMC3118311

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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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