Metabolic: Hunter syndrome: 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 · Metabolic: Hunter syndrome

Sample item

A boy has coarse features, aggressive behaviour, hepatosplenomegaly and clear corneas. His maternal uncle had similar disease. What is the inheritance?

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

The answer and the reasoning

C. X-linked recessive

Hunter syndrome is iduronate-2-sulfatase deficiency and is the only X-linked mucopolysaccharidosis. Affected boys have no corneal clouding and show papules on the skin. Enzyme replacement therapy with idursulfase is available.

Option by option

  • A. Autosomal recessive

    Other mucopolysaccharidoses are autosomal recessive.

  • B. Mitochondrial

    It is not maternally transmitted via mitochondria.

  • C. X-linked recessive (correct)

    Correct. Hunter syndrome is X-linked recessive.

  • D. Autosomal dominant

    It is not dominant.

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, X-linked recessive. Hunter syndrome is iduronate-2-sulfatase deficiency and is the only X-linked mucopolysaccharidosis.

Why is "Autosomal recessive" not the answer?

Other mucopolysaccharidoses are autosomal recessive.

Why is "Mitochondrial" not the answer?

It is not maternally transmitted via mitochondria.

Why is "Autosomal dominant" not the answer?

It is not dominant.

What concept does this question test?

It tests Metabolic: Hunter syndrome in Pediatrics. Affected boys have no corneal clouding and show papules on the skin. Enzyme replacement therapy with idursulfase 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 Metabolic: Hunter syndrome?

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.