Full 2L QBank
Pediatrics General a45464a8

An infant presents to OPD with signs of heart failure. On examination, there is hypotonia; hepatomegaly, cardiomegaly. ECG shows tall QRS complex and short PR interval. Which enzyme is deficient in this condition?

A
Glucose 6 - phosphatase
B
Muscle phosphorylase
C
Liver phosphorylase
D
Acid maltase
High-Yield Explanation
Hypotonia, hepatomegaly, cardiomegalyare seen in Pompe disease. Acid maltase or Alpha 1,4. Glucosidase is deficient in Pompe disease.

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