Metabolic: Gaucher 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: Gaucher disease

Sample item

A child has massive splenomegaly, anaemia, thrombocytopenia and bone pain. Bone marrow shows cells with crumpled tissue paper cytoplasm. Which enzyme is deficient?

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

The answer and the reasoning

D. Glucocerebrosidase

Gaucher disease is the commonest lysosomal storage disease, with glucocerebrosidase deficiency causing glucocerebroside accumulation in macrophages. Enzyme replacement with imiglucerase is effective for type 1. Erlenmeyer flask deformity of the femur is a typical X-ray sign.

Option by option

  • A. Alpha-L-iduronidase

    Alpha-L-iduronidase deficiency causes Hurler syndrome.

  • B. Hexosaminidase A

    Hexosaminidase A deficiency causes Tay-Sachs disease.

  • C. Sphingomyelinase

    Sphingomyelinase deficiency causes Niemann-Pick disease.

  • D. Glucocerebrosidase (correct)

    Correct. Glucocerebrosidase is deficient.

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 D, Glucocerebrosidase. Gaucher disease is the commonest lysosomal storage disease, with glucocerebrosidase deficiency causing glucocerebroside accumulation in macrophages.

Why is "Alpha-L-iduronidase" not the answer?

Alpha-L-iduronidase deficiency causes Hurler syndrome.

Why is "Hexosaminidase A" not the answer?

Hexosaminidase A deficiency causes Tay-Sachs disease.

Why is "Sphingomyelinase" not the answer?

Sphingomyelinase deficiency causes Niemann-Pick disease.

What concept does this question test?

It tests Metabolic: Gaucher disease in Pediatrics. Enzyme replacement with imiglucerase is effective for type 1. Erlenmeyer flask deformity of the femur is a typical X-ray sign.

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: Gaucher 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.