Genodermatoses: Fabry disease: practice question

A Dermatology 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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Dermatology · Genodermatoses: Fabry disease

Sample item

A 16-year-old boy has burning pain in the hands and feet, hypohidrosis and clusters of small dark red non-blanching papules in the bathing-trunk area. His maternal uncle died of renal failure. Which enzyme is deficient?

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

The answer and the reasoning

D. Alpha-galactosidase A

Fabry disease is X-linked deficiency of alpha-galactosidase A, causing accumulation of globotriaosylceramide. Angiokeratomas in the bathing-trunk region, acroparaesthesia, corneal whorls and later renal and cardiac disease are typical. Enzyme replacement is available.

Option by option

  • A. Acid sphingomyelinase

    Acid sphingomyelinase deficiency causes Niemann-Pick disease.

  • B. Hexosaminidase A

    Hexosaminidase A deficiency causes Tay-Sachs disease.

  • C. Glucocerebrosidase

    Glucocerebrosidase deficiency causes Gaucher disease.

  • D. Alpha-galactosidase A (correct)

    Correct. Alpha-galactosidase A deficiency causes Fabry 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 Dermatology question

What is the answer to this Dermatology question?

The best answer is D, Alpha-galactosidase A. Fabry disease is X-linked deficiency of alpha-galactosidase A, causing accumulation of globotriaosylceramide.

Why is "Acid sphingomyelinase" not the answer?

Acid sphingomyelinase deficiency causes Niemann-Pick disease.

Why is "Hexosaminidase A" not the answer?

Hexosaminidase A deficiency causes Tay-Sachs disease.

Why is "Glucocerebrosidase" not the answer?

Glucocerebrosidase deficiency causes Gaucher disease.

What concept does this question test?

It tests Genodermatoses: Fabry disease in Dermatology. Angiokeratomas in the bathing-trunk region, acroparaesthesia, corneal whorls and later renal and cardiac disease are typical. Enzyme replacement is available.

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 Genodermatoses: Fabry disease?

Learn each condition by its primary lesion, site and signature sign. Then use the flashcards and the other Dermatology 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.