Glycogen storage disease: Pompe: practice question

A Biochemistry 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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Biochemistry · Glycogen storage disease: Pompe

Sample item

An infant has hypotonia, macroglossia, hypertrophic cardiomyopathy, and elevated CK. Which enzyme is deficient?

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

The answer and the reasoning

B. Lysosomal acid alpha-glucosidase

Pompe disease is lysosomal acid alpha-glucosidase deficiency, causing glycogen accumulation in cardiac and skeletal muscle. Infantile disease presents with cardiomyopathy and profound hypotonia.

Option by option

  • A. Branching enzyme

    Branching-enzyme deficiency causes Andersen disease.

  • B. Lysosomal acid alpha-glucosidase (correct)

    Correct. Acid alpha-glucosidase deficiency defines Pompe disease.

  • C. Galactose-1-phosphate uridyltransferase

    GALT deficiency causes classic galactosemia.

  • D. Glucose-6-phosphatase

    Glucose-6-phosphatase deficiency causes von Gierke 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 Biochemistry question

What is the answer to this Biochemistry question?

The best answer is B, Lysosomal acid alpha-glucosidase. Pompe disease is lysosomal acid alpha-glucosidase deficiency, causing glycogen accumulation in cardiac and skeletal muscle.

Why is "Branching enzyme" not the answer?

Branching-enzyme deficiency causes Andersen disease.

Why is "Galactose-1-phosphate uridyltransferase" not the answer?

GALT deficiency causes classic galactosemia.

Why is "Glucose-6-phosphatase" not the answer?

Glucose-6-phosphatase deficiency causes von Gierke disease.

What concept does this question test?

It tests Glycogen storage disease: Pompe in Biochemistry. Infantile disease presents with cardiomyopathy and profound hypotonia.

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 Glycogen storage disease: Pompe?

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.

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.