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GENATLAS PHENOTYPE
last update : 27-11-2009
Symbol GSDH
Location 7q36.1
Name glycogen storage disease of the heart
Other name(s) cardiomyopathy, familial hypertrophic, with Wolf-Parkinson-White syndrome
Corresponding gene PRKAG2
Main clinical features
  • hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome and fatal congenital nonlysosomal cardiac glycogenosis with early death
  • metabolic storage disease in which hypertrophy, ventricular preexcitation, and conduction system defects coexist
  • skeletal muscle biopsy showed increased free glycogen and decreased activity of phosphorylase b kinase (PHK)
    • Genetic determination autosomal dominant
    Function/system disorder metabolism/carbohydrates
    cardiovascular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function R531Q, mutation that reduces the binding of AMP and ATP to the isolated nucleotide-binding domains, and prevents activation of the heterotrimer by metabolic stress in intact cells
    Remark(s) mutation causes biphasic changes in myocardial AMPK activity and does not protect against ischemia