Related Experiment Video
Updated: Jun 22, 2026

Biochemical Titration of Glycogen In vitro
Published on: November 24, 2013
Emerging therapies for glycogen storage disease type I
D D Koeberl1, P S Kishnani, D Bali
1Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA. dwight.koeberl@duke.edu
Abstract:
Glycogen storage disease type I (GSD I) is caused by deficiency of the glucose-6-phosphatase catalytic subunit in type Ia or of glucose-6-phosphate transporter in type Ib. The cellular bases for disruptions of homeostasis have been increasingly understood in GSD I, including those for anemia, renal failure and neutropenia. Advances in the understanding of cellular abnormalities in GSD I have provided rationales for new therapy, and recent developments in gene therapy have led to potential curative treatments for GSD I. These advances will benefit patients with GSD I in the future, improving both quality of life and survival, as well as illuminating the molecular effects of altered metabolism upon multiple organ systems.
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