Metabolic: Von Gierke disease: practice question

A Pediatrics question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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Pediatrics · Metabolic: Von Gierke disease

Sample item

A 6-month-old has hepatomegaly, doll-like facies, fasting hypoglycaemia, lactic acidosis, hyperuricaemia and hyperlipidaemia. Which enzyme is deficient?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

A. Glucose-6-phosphatase

Glycogen storage disease type I (von Gierke) is glucose-6-phosphatase deficiency, preventing release of glucose from glycogenolysis and gluconeogenesis. Frequent feeds and uncooked cornstarch prevent hypoglycaemia. Pompe disease is acid maltase deficiency with cardiomegaly.

Option by option

  • A. Glucose-6-phosphatase (correct)

    Correct. G6Pase deficiency causes GSD I.

  • B. Acid alpha-glucosidase

    Acid alpha-glucosidase deficiency is Pompe disease.

  • C. Debranching enzyme

    Debranching enzyme deficiency is Cori disease.

  • D. Muscle phosphorylase

    Muscle phosphorylase deficiency is McArdle disease.

Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.

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Questions about this Pediatrics question

What is the answer to this Pediatrics question?

The best answer is A, Glucose-6-phosphatase. Glycogen storage disease type I (von Gierke) is glucose-6-phosphatase deficiency, preventing release of glucose from glycogenolysis and gluconeogenesis.

Why is "Acid alpha-glucosidase" not the answer?

Acid alpha-glucosidase deficiency is Pompe disease.

Why is "Debranching enzyme" not the answer?

Debranching enzyme deficiency is Cori disease.

Why is "Muscle phosphorylase" not the answer?

Muscle phosphorylase deficiency is McArdle disease.

What concept does this question test?

It tests Metabolic: Von Gierke disease in Pediatrics. Frequent feeds and uncooked cornstarch prevent hypoglycaemia. Pompe disease is acid maltase deficiency with cardiomegaly.

How hard is this question?

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.

How should I study Metabolic: Von Gierke disease?

Memorise milestones and the vaccine schedule as tables and revise them often. Then use the flashcards and the other Pediatrics questions on this site to test what stuck.

Is this a real NEET PG question?

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.