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Biochemistry · Minerals: molybdenum
Sample itemA neonate has intractable seizures, lens dislocation and very low serum uric acid. Urine contains high sulfite and S-sulfocysteine. A defect in synthesis of molybdenum cofactor is diagnosed. Which pair of enzymes is deficient in function?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Sulfite oxidase and xanthine oxidase
Molybdenum cofactor is needed by sulfite oxidase, xanthine oxidase and aldehyde oxidase. Loss of sulfite oxidase causes toxic sulfite accumulation with neurological damage and lens dislocation, and loss of xanthine oxidase blocks the conversion of hypoxanthine and xanthine to uric acid, giving hypouricaemia.
Option by option
A. Methionine synthase and HGPRT
Methionine synthase uses cobalamin and HGPRT needs magnesium, so neither uses molybdenum.
B. Cystathionine beta-synthase and xanthine oxidase
Cystathionine beta-synthase needs pyridoxal phosphate and is deficient in homocystinuria, which has raised homocysteine.
C. Sulfite oxidase and xanthine oxidase (correct)
Correct. Both enzymes require the molybdenum cofactor.
D. Cytochrome c oxidase and sulfite oxidase
Cytochrome c oxidase is a copper-containing enzyme and does not use molybdenum.
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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