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Old 10-31-2011
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Biochemistry Glycogen storage disease and a heart problem

A patient with a known glycogen storage disease develops symptoms consistent with left ventricular outflow tract obstruction. Which of the following will be found in this patient?

A. Moderate hypoglycemia
B. Skeletal muscle hypotonia
C. Hypoglycemic seizures
D. Anoxic brain damage
E. Myoglobinuria
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Old 10-31-2011
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is it pompe?? i guess it would be B
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The correct answer is B.
LV hypertrophy with subsequent outflow tract obstruction is a feature of Type II GSD (Pompe’s). This is a defect of lysosomal glycogenolysis, so glycogen accumulates in intracellular lysosomes. Over time, this leads to muscular hypertrophy but also ↓ muscular function, manifested as hypotonia. Because the vast majority of glycogenolysis remains intact in these patients, they do not experience hypoglycemia and its sequelae, which include seizures and anoxic brain injury. Myoglobinuria is a feature of Type V (McArdle’s) GSD, in which skeletal glycogen phosphorylase is defective
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B. Skeletal muscle hypotonia
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