Cell injury and adaptation: Fabry disease: practice question

A Pathology 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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Pathology · Cell injury and adaptation: Fabry disease

Sample item

A 17-year-old boy has episodes of burning pain in the hands and feet, clusters of dark red papules around the umbilicus and proteinuria. His maternal uncle died of renal failure. Which enzyme is deficient?

AGlucocerebrosidaseBAlpha-galactosidase ACHexosaminidase ADAlpha-L-iduronidase

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

The answer and the reasoning

B. Alpha-galactosidase A

Fabry disease is an X-linked lysosomal disorder in which ceramide trihexoside accumulates in vascular endothelium, kidney, heart and nerves. This explains the angiokeratomas, painful acroparesthesias and progressive renal and cardiac disease. The X-linked pattern fits the affected maternal uncle.

Option by option

A. Glucocerebrosidase
Glucocerebrosidase deficiency causes Gaucher disease, an autosomal recessive disorder with bone crises.
B. Alpha-galactosidase A (correct)
Correct. Absent alpha-galactosidase A causes glycolipid build-up in vessels, kidney and nerves.
C. Hexosaminidase A
Hexosaminidase A deficiency causes Tay-Sachs disease, an infantile neurodegenerative illness.
D. Alpha-L-iduronidase
Alpha-L-iduronidase deficiency causes 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.

Questions about this Pathology question

What is the answer to this Pathology question?

The best answer is B, Alpha-galactosidase A. Fabry disease is an X-linked lysosomal disorder in which ceramide trihexoside accumulates in vascular endothelium, kidney, heart and nerves.

Why is "Glucocerebrosidase" not the answer?

Glucocerebrosidase deficiency causes Gaucher disease, an autosomal recessive disorder with bone crises.

Why is "Hexosaminidase A" not the answer?

Hexosaminidase A deficiency causes Tay-Sachs disease, an infantile neurodegenerative illness.

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

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

What concept does this question test?

It tests Cell injury and adaptation: Fabry disease in Pathology. This explains the angiokeratomas, painful acroparesthesias and progressive renal and cardiac disease. The X-linked pattern fits the affected maternal uncle.

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 Cell injury and adaptation: Fabry disease?

Learn each disease as a bundle: cause, key histology, markers, and the clinical hallmark. Then use the flashcards and the other Pathology 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.