Literature Review Of Acute Intermittent Porphyria

Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase (approved gene symbol HMBS), also known as porphobilinogen deaminase (PBGD). AIP is the most common type of porphyrias. The highly variable symptomatic presentation of AIP causes confusion with other diseases and results in a high misdiagnosis rate and delayed effective treatments. We summarize research about pathogenesis, gene mutation and treatment of AIP, including two AIP cases from two different families and gene analysis of family members in our hospital.