Genetic and metabolic disorders: Fabry 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 · Genetic and metabolic disorders: Fabry disease

Sample item

A 10-year-old boy has episodes of burning pain in the hands and feet with fever, reddish-purple punctate skin lesions around the umbilicus and reduced sweating. 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

C. Alpha-galactosidase A

Fabry disease is an X-linked lysosomal disorder of alpha-galactosidase A with globotriaosylceramide accumulation. It causes acroparesthesias, angiokeratomas, hypohidrosis and corneal verticillata, then renal failure and cardiac and cerebrovascular disease in adulthood. Enzyme replacement therapy is available.

Option by option

  • A. Arylsulfatase A

    Arylsulfatase A deficiency is metachromatic leukodystrophy, with progressive neurological decline.

  • B. Beta-glucosidase

    Beta-glucosidase deficiency is Gaucher disease, with organomegaly and bone disease.

  • C. Alpha-galactosidase A (correct)

    Correct. Alpha-galactosidase A deficiency causes acroparesthesias and angiokeratomas.

  • D. Alpha-L-iduronidase

    Alpha-L-iduronidase deficiency is Hurler syndrome, with coarse facies and corneal clouding.

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 C, Alpha-galactosidase A. Fabry disease is an X-linked lysosomal disorder of alpha-galactosidase A with globotriaosylceramide accumulation.

Why is "Arylsulfatase A" not the answer?

Arylsulfatase A deficiency is metachromatic leukodystrophy, with progressive neurological decline.

Why is "Beta-glucosidase" not the answer?

Beta-glucosidase deficiency is Gaucher disease, with organomegaly and bone disease.

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

Alpha-L-iduronidase deficiency is Hurler syndrome, with coarse facies and corneal clouding.

What concept does this question test?

It tests Genetic and metabolic disorders: Fabry disease in Pediatrics. It causes acroparesthesias, angiokeratomas, hypohidrosis and corneal verticillata, then renal failure and cardiac and cerebrovascular disease in adulthood. 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 Genetic and metabolic disorders: Fabry 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.