Glycogen storage disease of heart

Definition:

Glycogen storage disease of heart is an autosomal dominant disorder of glycogen metabolism. This disease is caused by mutations in the PRKAG2 gene, which encodes gamma-2 subunit of AMPK. It is characterized by fatal infantile cardiomyopathy, often associated with apparent phosphorylase b kinase deficiency.

References:

[1]. Barbara Burwinkel, et al. Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am J Hum Genet. 2005 Jun;76(6):1034-49. [Content Brief]

[2]. Hasan O Akman, et al. Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase. Pediatr Res. 2007 Oct;62(4):499-504. [Content Brief]

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