Lysosomal storage: Gaucher disease: 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 · Lysosomal storage: Gaucher disease

Sample item

An 8-year-old boy has splenomegaly, anaemia, thrombocytopenia and bone pain with an Erlenmeyer flask deformity of the femur. Marrow shows macrophages with crumpled tissue paper cytoplasm. Which enzyme is given as replacement therapy?

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

The answer and the reasoning

D. Recombinant glucocerebrosidase (imiglucerase)

The picture is Gaucher disease, caused by deficiency of lysosomal glucocerebrosidase with storage of glucocerebroside in macrophages. Enzyme replacement with imiglucerase reduces organomegaly and cytopenias. Substrate reduction with eliglustat is an oral option.

Option by option

  • A. Recombinant alpha-galactosidase A

    Alpha-galactosidase A is used for Fabry disease.

  • B. Recombinant acid alpha-glucosidase

    Acid alpha-glucosidase is used for Pompe disease.

  • C. Recombinant alpha-L-iduronidase

    Alpha-L-iduronidase is used for mucopolysaccharidosis type I (Hurler disease).

  • D. Recombinant glucocerebrosidase (imiglucerase) (correct)

    Correct. Glucocerebrosidase replaces the missing lysosomal enzyme in Gaucher 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 D, Recombinant glucocerebrosidase (imiglucerase). The picture is Gaucher disease, caused by deficiency of lysosomal glucocerebrosidase with storage of glucocerebroside in macrophages.

Why is "Recombinant alpha-galactosidase A" not the answer?

Alpha-galactosidase A is used for Fabry disease.

Why is "Recombinant acid alpha-glucosidase" not the answer?

Acid alpha-glucosidase is used for Pompe disease.

Why is "Recombinant alpha-L-iduronidase" not the answer?

Alpha-L-iduronidase is used for mucopolysaccharidosis type I (Hurler disease).

What concept does this question test?

It tests Lysosomal storage: Gaucher disease in Biochemistry. Enzyme replacement with imiglucerase reduces organomegaly and cytopenias. Substrate reduction with eliglustat is an oral option.

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 Lysosomal storage: Gaucher disease?

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.