Abstract :
Acute Intermittent Porphyria (AIP) is the most common acute and probably the most common inherited porphyria. AIP is caused due to deficiency of hydroxymethylbilane synthase (HMBS). AIP is characterized by a classical triad of abdominal pain, central nervous system abnormalities and peripheral neuropathy. We report a case of 27 year old female patient with recurrent episodes of acute abdominal pain. Patient underwent all laboratory & imaging investigations at our centre.
Keyword :
Acute intermittent porphyria, Porphobilinogen, Hydroxymethylbilane synthase