Endocrine Abstracts

Background: Acute intermittent porphyria (AIP) is an inherited autosomal dominant disorder characterized by hepatic deficiency of hydroxymethylbilane synthase (HMBS)/porphobilinogen deaminase (PBGD), the third enzyme of the heme synthesis pathway. Hyponatremia is one of the main presenting symptoms and it is thought to be related to an inadequate secretion of ADH (SIADH). Since AIP is an uncommon disease, there is little information about how AIP related hyponatremia responds ...