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Old 02-10-2013
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Arrow Billy Step 1 Questions # 110

An 8-month-old boy is brought to the pediatrician by his parents because he has recently lost the ability to crawl or hold his toys. On examination the patient is tachypneic and breathing with considerable effort; the liver is palpable five fi ngerwidths below the right costal margin. X-ray of the chest reveals cardiomegaly. He has a difficult time sitting upright and cannot squeeze the physician’s fingers or the ring of his pacifier with any noticeable force. Despite a number of interventions, the child’s symptoms continue to worsen until his death 2 weeks later. On autopsy, it is likely that this patient’s cells will contain an accumulation of which of the following substances?


(A) Glucose
(B) Glycogen
(C) Oxaloacetate
(D) Pyruvate
(E) Urea
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Old 02-10-2013
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It's glycogen baby ....
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Old 02-10-2013
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B
Pompes disease
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Its Glycogen storage disease - Pompes disease.
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(B) Glycogen
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Old 02-11-2013
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Correct Answer B is correct

This patient has Pompe’s disease, a glycogen storage disorder. Pompe’s disease is an autosomal recessive disease that is characterized by a defi ciency or defect in lysosomal α-1,4-glucosidase. This enzyme is necessary for the dissolution of the polymer linkages in glycogen. In its absence, glycogen accumulates to toxic levels in both the cytoplasm and lysosomes.
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