03-24-2009, 07:51 AM
24-year-old pregnant woman, now at 38 weeks gestation and without any previous prenatal care, presents to the emergency department. The infant is delivered without complications by spontaneous vaginal delivery. Evaluation of the infant reveals severe cardiomegaly and normal blood sugar levels. Accumulation of glycogen in cytosolic vacuoles is noted. Which enzyme is most likely deficient?
A Alpha-glucosidase
B Debranching enzyme
C Glucose-6-phosphatase
D Glycogen phosphorylase
E Pyruvate kinase
A Alpha-glucosidase
B Debranching enzyme
C Glucose-6-phosphatase
D Glycogen phosphorylase
E Pyruvate kinase