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Biochemistry · Molecular biology and genetics: NAT2 and isoniazid
Sample itemA man with tuberculosis develops peripheral neuropathy on standard-dose isoniazid. Genotyping shows variants that reduce hepatic N-acetylation of the drug. Which pharmacogenetic phenotype does he have?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. Slow NAT2 acetylator
Slow acetylators clear isoniazid more slowly, leading to higher drug levels and more neuropathy and pyridoxine depletion. Fast acetylators have lower levels and may have reduced efficacy. TPMT and CYP2D6 govern thiopurines and drugs such as codeine, not isoniazid.
Option by option
A. CYP2D6 poor metaboliser
CYP2D6 does not metabolise isoniazid appreciably.
B. Slow NAT2 acetylator (correct)
Correct. Reduced N-acetylation prolongs isoniazid exposure and increases neuropathy.
C. Fast NAT2 acetylator
Fast acetylation would lower drug levels and reduce the risk of neuropathy.
D. TPMT deficiency
TPMT deficiency affects thiopurine handling.
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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