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MBBS
QUESTION #10324
Question 1
Acute intermittent porphyria results from a partial deficiency of which heme biosynthetic enzyme, leading to accumulation of porphobilinogen and delta-aminolevulinic acid (ALA) and presenting with abdominal pain, neuropsychiatric symptoms, and dark urine?
Correct Answer Explanation
Partial deficiency of porphobilinogen deaminase causes acute intermittent porphyria; because this block occurs relatively early in the pathway, ALA and porphobilinogen (rather than photosensitizing porphyrins) accumulate, producing acute neurovisceral attacks without the cutaneous photosensitivity seen in other porphyrias.
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