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 diet

Patient discussion about glycogen storage disease II

Q. help with tingling in the hands amd numness

A. I have experienced the same conditions in the past on numerous occasions. The malady, more than likely, is Carpal Tunnel Syndrome. You should consult a neurologist for a diagnosis.

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References in periodicals archive ?
Analysis on novel mutations in GAA gene of a Chinese family with two siblings affected with juvenile onset form glycogen storage disease II (in Chinese).

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