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Article

The variable clinical phenotype of liver glycogen synthase deficiency.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Dec 2007

Spiegel R, Mahamid J, Orho-Melander M, Miron D, Horovitz Y

Abstract excerpt

We report two new cases of liver glycogen synthase deficiency (GSD0). The first patient presented at the age of 8 months with recurrent hypoglycemic seizures. The second patient presented at 14 months with asymptomatic incidental hyperglycemia. Glucose monitoring in both patients revealed daily fluctuations from fasting hypoglycemia to postprandial hyperglycemia. Genetic analysis of the GYS2 gene confirmed the...

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Source

Identifiers

PMID: 18341095
DOI: 10.1515/jpem.2007.20.12.1339

Genes

GYS2

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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