Vitamins and minerals: laboratory diagnosis of Wilson disease: practice question

A Biochemistry 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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Biochemistry · Vitamins and minerals: laboratory diagnosis of Wilson disease

Sample item

A 16-year-old has tremor, personality change, chronic hepatitis and a Coombs-negative haemolytic episode. Slit-lamp examination shows golden-brown corneal rings. Which pair of laboratory findings best supports the diagnosis?

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

The answer and the reasoning

D. Low serum ceruloplasmin with raised 24-hour urinary copper

In Wilson disease, defective ATP7B reduces copper incorporation into ceruloplasmin, so serum ceruloplasmin is low. Non-ceruloplasmin copper in plasma is raised and 24-hour urinary copper excretion is increased. Hepatic copper content is also raised.

Option by option

  • A. Raised serum ceruloplasmin with low 24-hour urinary copper

    Raised ceruloplasmin and low urinary copper is the opposite of the expected finding.

  • B. Low serum ceruloplasmin with low 24-hour urinary copper

    Low ceruloplasmin with low urinary copper suggests Menkes disease or copper deficiency.

  • C. Normal serum ceruloplasmin with raised transferrin saturation

    Raised transferrin saturation points to iron overload, not copper overload.

  • D. Low serum ceruloplasmin with raised 24-hour urinary copper (correct)

    Correct. Low ceruloplasmin with increased urinary copper is the typical biochemical pattern.

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 Biochemistry question

What is the answer to this Biochemistry question?

The best answer is D, Low serum ceruloplasmin with raised 24-hour urinary copper. In Wilson disease, defective ATP7B reduces copper incorporation into ceruloplasmin, so serum ceruloplasmin is low.

Why is "Raised serum ceruloplasmin with low 24-hour urinary copper" not the answer?

Raised ceruloplasmin and low urinary copper is the opposite of the expected finding.

Why is "Low serum ceruloplasmin with low 24-hour urinary copper" not the answer?

Low ceruloplasmin with low urinary copper suggests Menkes disease or copper deficiency.

Why is "Normal serum ceruloplasmin with raised transferrin saturation" not the answer?

Raised transferrin saturation points to iron overload, not copper overload.

What concept does this question test?

It tests Vitamins and minerals: laboratory diagnosis of Wilson disease in Biochemistry. Non-ceruloplasmin copper in plasma is raised and 24-hour urinary copper excretion is increased. Hepatic copper content is also raised.

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 Vitamins and minerals: laboratory diagnosis of Wilson disease?

Build one table of enzyme deficiency, disease, inheritance and key finding, then revise it by spaced recall. Then use the flashcards and the other Biochemistry 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.