Glycogen storage disorders: practice question

The best answer is B, Glucose-6-phosphatase. Without glucose-6-phosphatase the liver cannot release free glucose, causing severe fasting hypoglycaemia, hepatomegaly, lactic acidosis, hyperuricaemia and hyperlipidaemia.

Debranching enzyme deficiency is Cori disease, a milder form with limit dextrin accumulation.

Muscle phosphorylase deficiency is McArdle disease, with exercise cramps and no lactate rise.

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

It tests Glycogen storage disorders in Biochemistry. Pompe disease is acid maltase deficiency, McArdle is muscle phosphorylase deficiency and Cori disease is debranching enzyme deficiency.

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.