USMLE (Fach) / Hematology and Oncology (Lektion)
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Acute intermittent porphyria
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Deficient enzyme: Porphobilinogen deaminaseAccumulated substrate: Porphibilinogen, δ-ALA- Autosomal dominant
Symptoms:- Painful abdomen- Port wine-colored urine- Polyneuropathy- Psychological distrubances- Precipitated by drugs (eg, cytochrome P-450 inducers), alcohol, starvation
Treatment: glucose and hemin, which inhibit ALA synthase
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