Cell injury and adaptation: Hunter syndrome: 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: Hunter syndrome

Sample item

A boy with coarse facies, hepatosplenomegaly and mental decline has no corneal clouding. The disorder is X-linked. Which enzyme is deficient?

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

The answer and the reasoning

B. Iduronate sulfatase

Hunter syndrome (mucopolysaccharidosis II) is X-linked recessive, due to iduronate sulfatase deficiency, and lacks corneal clouding. Hurler syndrome is autosomal recessive with alpha-L-iduronidase deficiency and corneal clouding.

Option by option

  • A. Alpha-L-iduronidase

    Alpha-L-iduronidase deficiency causes Hurler syndrome, autosomal recessive with corneal clouding.

  • B. Iduronate sulfatase (correct)

    Correct. Iduronate sulfatase deficiency, X-linked, without corneal clouding.

  • C. Alpha-galactosidase A

    Alpha-galactosidase A deficiency causes Fabry disease, which is also X-linked but a sphingolipidosis.

  • D. Glucocerebrosidase

    Glucocerebrosidase deficiency causes 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 Pathology question

What is the answer to this Pathology question?

The best answer is B, Iduronate sulfatase. Hunter syndrome (mucopolysaccharidosis II) is X-linked recessive, due to iduronate sulfatase deficiency, and lacks corneal clouding.

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

Alpha-L-iduronidase deficiency causes Hurler syndrome, autosomal recessive with corneal clouding.

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

Alpha-galactosidase A deficiency causes Fabry disease, which is also X-linked but a sphingolipidosis.

Why is "Glucocerebrosidase" not the answer?

Glucocerebrosidase deficiency causes Gaucher disease.

What concept does this question test?

It tests Cell injury and adaptation: Hunter syndrome in Pathology. Hurler syndrome is autosomal recessive with alpha-L-iduronidase deficiency and corneal clouding.

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 Cell injury and adaptation: Hunter syndrome?

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.