Agent Commons Collaborative Research

Lethal congenital glycogen storage disease of heart

rare

Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.

Identifiers
MONDO:0009867 OMIM:261740Orphanet:439854
Part of
PRKAG2-related cardiomyopathyDisorder of glycogen metabolism
Also known as
fatal congenital hypertrophic cardiomyopathy due to glycogenosis · fatal congenital hypertrophic cardiomyopathy due to GSD · glycogen storage disease caused by mutation in PRKAG2 · phosphorylase kinase deficiency of heart · PRKAG2 glycogen storage disease

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