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Aminolevulinate dehydratase
5%
3/64
Aminolevulinate synthase
9%
6/64
Ferrochelatase
8%
5/64
Porphobilinogen deaminase
55%
35/64
Uroporphyrinogen decarboxylase
19%
12/64
Select Answer to see Preferred Response
This patient who experienced seizures, insomnia, abdominal pain, and dark urine after taking OCPs most likely has acute intermittent porphyria, which is caused by a defect in porphobilinogen deaminase. Acute intermittent porphyria (AIP) is an inherited metabolic disease resulting from deficiency in the heme synthesis pathway enzyme porphobilinogen deaminase (PBD). AIP is the most common acute porphyria and presents with primary symptoms that can be remembered with the 5 P’s mnemonic - severe abdominal Pain without tenderness on palpation, neurological symptoms such as Polyneuropathy, Psychiatric symptoms, Port wine-colored urine, and Precipitated by an exposure. On physical exam, patients are often normal except for tachycardia and hypertension. Incorrect Answers: Answer 1: Aminolevulinate dehydratase is inhibited by lead poisoning; however, there is no evidence that this patient has lead poisoning (old house, lead lines, wrist drop, etc.) Answer 2: Aminolevulinate synthase is the rate-limiting step of porphyrin ring synthesis; however, it is not defective in any of the common porphyria disorders. Answer 3: Ferrochelatase is inhibited by lead poisoning; however, there is no evidence that this patient has lead poisoning (old house, lead lines, wrist drop, etc.) Answer 5: Uroporphyrinogen decarboxylase is defective in porphyria cutanea tarda; however, this disease would present with skin blistering in sunlight. Bullet Summary: Acute intermittent porphyria is caused by a defect in the porphobilinogen deaminase enzyme.
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