Glycogen storage diseases: practice question

The best answer is D, Glucose-6-phosphatase. Von Gierke disease (type I) is the failure of the final step of both glycogenolysis and gluconeogenesis, so the liver cannot release free glucose.

Muscle phosphorylase deficiency is McArdle disease, with exercise cramps.

Debranching enzyme deficiency is Cori disease, milder, with normal lactate.

Acid maltase deficiency is Pompe disease, with cardiomegaly and hypotonia.

It tests Glycogen storage diseases in Biochemistry. Lactate and uric acid build up and the liver enlarges.

We tag it as an application question: it asks you to use a fact on a patient or a finding. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

Build one table of enzyme deficiency, disease, inheritance and key finding, then revise it by spaced recall. Then use the flashcards and the other Biochemistry questions on this site to test what stuck.

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.