A 23-year-old woman presents with severe colicky abdominal pain, anxiety, and dark reddish urine three days after initiating phenobarbital for insomnia. Vital signs show HR 118/min, BP 142/88 mmHg, RR 20/min, temperature 37.2°C. Physical examination reveals tachycardia but no acute skin lesions or neurological deficits. Urinalysis demonstrates dark urine with elevated porphobilinogen. Serum electrolytes are normal. Deficiency of which enzyme most likely explains these findings?
- A)ALA dehydratase
- B)Ferrochelatase
- C)Biliverdin reductase
- D)Uroporphyrinogen decarboxylase
- E)Porphobilinogen deaminaseGABARITO
Explicação
Acute intermittent porphyria is caused by porphobilinogen deaminase deficiency. It presents with painful neurovisceral attacks, psychiatric symptoms, and port wine colored urine that worsen with CYP450 inducing drugs such as barbiturates, but it does not cause... Ver explicação completa e trilha adaptativa →