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The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI.

Genes - 3 Aug 2021

Grünert Sarah Catharina, Hannibal Luciana, Spiekerkoetter Ute

Abstract excerpt

Glycogen storage disease type VI (GSD VI) is an autosomal recessive disorder of glycogen metabolism due to mutations in the glycogen phosphorylase gene (PYGL), resulting in a deficiency of hepatic glycogen phosphorylase. We performed a systematic literature review in order to collect information on the clinical phenotypes and genotypes of all published GSD VI patients and to compare the data to those for GSD IX,...

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Identifiers

PMID: 34440378
DOI: 10.3390/genes12081205
PMCID: PMC8391619

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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