Metabolic: Pompe 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: Pompe disease

Sample item

A hypotonic 3-month-old has cardiomegaly with short PR interval, macroglossia and hepatomegaly. Which treatment is available?

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

The answer and the reasoning

B. Enzyme replacement with alglucosidase alfa

Infantile Pompe disease (GSD II) is acid alpha-glucosidase deficiency, causing lysosomal glycogen storage in heart and muscle. Enzyme replacement therapy improves survival. Without treatment death from cardiorespiratory failure occurs in infancy.

Option by option

  • A. Cornstarch feeds

    Cornstarch is used for GSD I.

  • B. Enzyme replacement with alglucosidase alfa (correct)

    Correct. ERT is available for Pompe disease.

  • C. Low-protein diet

    Low-protein diet applies to urea cycle disorders.

  • D. Hydroxyurea

    Hydroxyurea applies to sickle cell 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 B, Enzyme replacement with alglucosidase alfa. Infantile Pompe disease (GSD II) is acid alpha-glucosidase deficiency, causing lysosomal glycogen storage in heart and muscle.

Why is "Cornstarch feeds" not the answer?

Cornstarch is used for GSD I.

Why is "Low-protein diet" not the answer?

Low-protein diet applies to urea cycle disorders.

Why is "Hydroxyurea" not the answer?

Hydroxyurea applies to sickle cell disease.

What concept does this question test?

It tests Metabolic: Pompe disease in Pediatrics. Enzyme replacement therapy improves survival. Without treatment death from cardiorespiratory failure occurs in infancy.

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 Metabolic: Pompe 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.