Metabolic bone disease: Gaucher disease: practice question

A Orthopaedics 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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Orthopaedics · Metabolic bone disease: Gaucher disease

Sample item

A 12-year-old has splenomegaly, anaemia, bone pain with episodes of fever, and an Erlenmeyer flask deformity of the distal femur. 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 a lysosomal storage disorder from glucocerebrosidase deficiency, with lipid-laden macrophages infiltrating the marrow. Bone crises, osteonecrosis and the Erlenmeyer flask deformity are typical, and enzyme replacement therapy is available.

Option by option

  • A. Alpha-galactosidase A

    Alpha-galactosidase A deficiency causes Fabry disease.

  • B. Hexosaminidase A

    Hexosaminidase A deficiency causes Tay-Sachs disease.

  • C. Sphingomyelinase

    Sphingomyelinase deficiency causes Niemann-Pick disease.

  • D. Glucocerebrosidase (correct)

    Correct. Glucocerebrosidase deficiency causes Gaucher disease with this bone picture.

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 Orthopaedics question

What is the answer to this Orthopaedics question?

The best answer is D, Glucocerebrosidase. Gaucher disease is a lysosomal storage disorder from glucocerebrosidase deficiency, with lipid-laden macrophages infiltrating the marrow.

Why is "Alpha-galactosidase A" not the answer?

Alpha-galactosidase A deficiency causes Fabry disease.

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 bone disease: Gaucher disease in Orthopaedics. Bone crises, osteonecrosis and the Erlenmeyer flask deformity are typical, and enzyme replacement therapy is available.

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 bone disease: Gaucher disease?

Pair each fracture with its classic complication and nerve injured. Then use the flashcards and the other Orthopaedics 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.