Glycogen storage disease type 0b

Definition:

Glycogen storage disease type 0b (GSD-0b), also known as muscle glycogen synthase deficiency, is an autosomal recessive disorder of glycogen metabolism. GSD-0b is caused by mutations in the GYS1 gene, which encodes muscle glycogen synthase. The role of muscle and heart glycogen is to provide critical energy during bursts of activity and sustained muscle work. It has been reported that patients showed muscle fatigability, hypertrophic cardiomyopathy, and an abnormal heart rate and blood pressure while exercising.

References:

[1]. Gittan Kollberg, et al. Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. N Engl J Med. 2007 Oct 11;357(15):1507-14. [Content Brief]

[2]. Jessie M Cameron, et al. Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts. Mol Genet Metab. 2009 Dec;98(4):378-82. [Content Brief]

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