Glycogen storage disease type XV

Definition:

Glycogen storage disease type XV(GSD-XV) is an autosomal recessive disorder of glycogen metabolism. GSD-XV is caused by mutations in the GYG1 gene, which encodes the glycogenin. The typical presentations are muscle weakness and cardiomyopathy.

References:

[1]. Ali-Reza Moslemi, et al. Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. N Engl J Med. 2010 Apr 1;362(13):1203-10. [Content Brief]

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