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Article

Obesity and reversed growth retardation in a child with type Ia glycogen storage disease.

Journal of pediatric endocrinology & metabolism : JPEM - 1 May 2010

Karnsakul Wikrom, Gillespie Stacey, Skitarelic Kathryn, Hummel Marybeth

Abstract excerpt

Type Ia Glycogen storage disease is an autosomal recessive hepatic metabolic disease due to a lack of glucose-6-phosphatase (G-6-Pase) activity presenting with growth retardation, lactic acidosis, fasting hypoglycemia with hypoinsulinemia, hyperuricemia, hepatomegaly, and hepatic adenoma with a risk of malignancy. The gene that encodes G-6-Pase was mapped to 17q21. There are some genotype-phenotype correlations....

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Source

Identifiers

PMID: 20662351
DOI: 10.1515/jpem.2010.083

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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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