ACUTE INTERMITTENT PORPHYRIA

Abstract

Acute intermittent porphyria(AIP) is an autosomal dominant, severe form of metabolic disorder affecting females more than males, due to partial deficiency of the enzyme Porphobilinogen Deaminase(PBGD)1. This leads to excessive formation and urinary excretion of porphyrin precursors, aminolaevulinic acid and porphobilinogen2. The patients usually present with sudden severe abdominal pain lasting for several hours which may mimic acute abdomen with associated symptoms of vomiting, fever, diarrhea and painful micturition. There are a large number of factors which may precipitate an acute attack of acute intermittent porphyria. These include drugs, alcohol, fasting / starvation, stress, smoking, chemicals and excess of estrogens and progesterone.This case report is presented to emphasize the need for being vigilant for this rare metabolic disorder.