Cell injury and adaptation: von Gierke disease: practice question

A Pathology 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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Pathology · Cell injury and adaptation: von Gierke disease

Sample item

An infant has hepatomegaly, severe fasting hypoglycaemia, lactic acidosis and hyperuricaemia, with glycogen and fat in hepatocytes. Which enzyme is deficient?

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

The answer and the reasoning

B. Glucose-6-phosphatase

Von Gierke disease (type I) is glucose-6-phosphatase deficiency, blocking the final step of gluconeogenesis and glycogenolysis. This gives fasting hypoglycaemia, lactic acidosis, hyperuricaemia and hyperlipidaemia with a large liver and kidneys.

Option by option

  • A. Debranching enzyme

    Debranching enzyme deficiency causes Cori disease, with milder hypoglycaemia and no lactic acidosis.

  • B. Glucose-6-phosphatase (correct)

    Correct. Absent glucose-6-phosphatase blocks release of free glucose and causes these features.

  • C. Acid alpha-glucosidase

    Acid alpha-glucosidase deficiency causes Pompe disease with cardiomegaly.

  • D. Muscle glycogen phosphorylase

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

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 Pathology question

What is the answer to this Pathology question?

The best answer is B, Glucose-6-phosphatase. Von Gierke disease (type I) is glucose-6-phosphatase deficiency, blocking the final step of gluconeogenesis and glycogenolysis.

Why is "Debranching enzyme" not the answer?

Debranching enzyme deficiency causes Cori disease, with milder hypoglycaemia and no lactic acidosis.

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

Acid alpha-glucosidase deficiency causes Pompe disease with cardiomegaly.

Why is "Muscle glycogen phosphorylase" not the answer?

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

What concept does this question test?

It tests Cell injury and adaptation: von Gierke disease in Pathology. This gives fasting hypoglycaemia, lactic acidosis, hyperuricaemia and hyperlipidaemia with a large liver and kidneys.

How hard is this question?

We tag it as a multi-step question: it asks you to combine more than one idea. 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 Cell injury and adaptation: von Gierke disease?

Learn each disease as a bundle: cause, key histology, markers, and the clinical hallmark. Then use the flashcards and the other Pathology 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.