glycogen storage disease II
glycogen storage disease II
Acid maltase deficiency, alpha-1,4--glucosidase deficiency, Pompe disease Metabolic disease An AR lysosomal storage disorder caused by a defect of α-1,4-glucosidase; the classic infantile form, GSD II, is characterized by cardiomyopathy, muscular hypotonia, occasionally glossomegaly and, in the juvenile and adult forms, skeletal muscle involvement Clinical Marked cardiomegaly; death by 1st yr Lab↑ CK Management High-protein, low carbohydrate dietPatient discussion about glycogen storage disease II
Q. help with tingling in the hands amd numness