Farrukh Iqbal, Durre Najaf.
Acute Intermittent Porphyria; A review.
Professional Med J Jan ;8(2):180-97.

Porphyrias are disorders involving a few enzymes in the home biosynthetic pathway. Enzyme defects leading to porphyria have been identified in 7 out of 8 enzymes involved in the biosynthesis of home. Diagnosis can be made by assay of porphyrin metabolites in plasma, urine and stool. A review of acute intermittent porphyria is presented in this article. Acute Intermittent Porphyria (AIP) is an autosomal dominant disorder caused by a defect in hydroxymethylbilane (HMB) syntheses activity. Abdominal pain is the most common symptom during an acute attack, but a variety of other symptoms also occur due to involvement of autonomic, central and peripheral nervous system. Syndrome of inappropriate antidiuretic hormone secretion (SIADH) is also described. Defect in HMB synthase causes a build up of alpha-aminolevulinic acid (ALA) and porphobilinogen (PBG) in the body leading to their increased excretion in urine. To confirm the diagnosis red blood cell (RBC) HMB synthase activity is determined. The treatment of an acute attack of AIP is high carbohydrate intake and intravenous (IV) hematin.

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