md90
04-26-2006, 03:30 PM
one year old child with severe hypotonia undergoes evaluation by a pediatric specialist; has hepatomegaly, cardiomegaly, and cardiomyopathy; extensive metabolic studies demonstrate deficient activity of lysosomal acid-alpha-glucosidase. what molecule is involved in this altered metabolism? What is the diagnosis?
-Glycogen, and dx is Pompe's disease..
-Glycogen, and dx is Pompe's disease..