Glycogen storage disease of heart (GSDH) 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.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C51 Inborn errors of carbohydrate metabolism
H01956 Glycogen storage disease of heart
Burwinkel B, Scott JW, Buhrer C, van Landeghem FK, Cox GF, Wilson CJ, Grahame Hardie D, Kilimann MW
Title
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.
