Genetic and metabolic disorders: Menkes 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: Menkes disease

Sample item

A 3-month-old boy has seizures, hypotonia and sparse, twisted, brittle hair. Serum copper and ceruloplasmin are low. Which defect is present?

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

The answer and the reasoning

D. Impaired intestinal copper transport (ATP7A)

Menkes disease is an X-linked defect of the copper-transporting ATPase ATP7A, so copper cannot be absorbed from the gut and cuproenzymes fail. This gives kinky hair, seizures, neurodegeneration and arterial tortuosity. Wilson disease, in contrast, is an ATP7B defect with copper accumulation.

Option by option

  • A. Defective iron export from enterocytes

    Iron export defects cause iron-restricted anaemia or overload, not kinky hair.

  • B. Defective intestinal zinc absorption

    Impaired zinc absorption causes acrodermatitis enteropathica.

  • C. Impaired biliary copper excretion (ATP7B)

    ATP7B defect is Wilson disease, with copper overload and low ceruloplasmin but later onset.

  • D. Impaired intestinal copper transport (ATP7A) (correct)

    Correct. ATP7A deficiency causes copper deficiency with kinky hair and neurodegeneration.

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 D, Impaired intestinal copper transport (ATP7A). Menkes disease is an X-linked defect of the copper-transporting ATPase ATP7A, so copper cannot be absorbed from the gut and cuproenzymes fail.

Why is "Defective iron export from enterocytes" not the answer?

Iron export defects cause iron-restricted anaemia or overload, not kinky hair.

Why is "Defective intestinal zinc absorption" not the answer?

Impaired zinc absorption causes acrodermatitis enteropathica.

Why is "Impaired biliary copper excretion (ATP7B)" not the answer?

ATP7B defect is Wilson disease, with copper overload and low ceruloplasmin but later onset.

What concept does this question test?

It tests Genetic and metabolic disorders: Menkes disease in Pediatrics. This gives kinky hair, seizures, neurodegeneration and arterial tortuosity. Wilson disease, in contrast, is an ATP7B defect with copper accumulation.

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: Menkes 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.