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Biochemistry · Heme metabolism: porphyria
Sample itemA patient has abdominal pain, neuropathy and darkening urine after barbiturate exposure, but no photosensitivity. Which enzyme is most likely deficient?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Porphobilinogen deaminase
Acute intermittent porphyria results from porphobilinogen deaminase deficiency. Hepatic CYP induction worsens attacks, and accumulated intermediates produce neurovisceral symptoms without cutaneous photosensitivity.
Option by option
A. Ferrochelatase
Ferrochelatase deficiency contributes to erythropoietic protoporphyria.
B. Uroporphyrinogen decarboxylase
Uroporphyrinogen decarboxylase deficiency causes porphyria cutanea tarda with photosensitivity.
C. Porphobilinogen deaminase (correct)
Correct. PBG deaminase deficiency causes acute intermittent porphyria.
D. ALA dehydratase
ALA dehydratase is inhibited by lead and is rarely deficient.
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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