Oneliner_1806

OneLiner

Breathlessness, peripheral edema, and fatigue in this child are signs of a heart condition. Also hepatomegaly, muscular hypotonia, and decreased acid maltase levels, all point toward a glycogen storage disease. Pompe disease is a type II glycogen storage disease that primarily affects the heart (“Pompe trashes the Pump”). In Pompe disease, lysosomal α1,4-glucosidase is absent, which is necessary for the hydrolysis of the outer branches of glycogen.