Acute intermittent porphyria

Disease Overview

Acute intermittent porphyria (AIP) is one of the liver (hepatic) porphyrias. AIP is caused by low levels of porphobilinogen deaminase (PBGD), an enzyme also often called hydroxymethylbilane synthase. The low levels of PBGD are generally not sufficient to cause symptoms; however, activating factors such as hormones, drugs, and dietary changes may trigger symptoms. Although most individuals with AIP never develop symptoms, symptomatic individuals typically present with abdominal pain with nausea. Treatment is dependent on the symptoms.[690] 

Synonyms

• AIP
• Porphobilinogen deaminase deficiency
• PBGD deficiency
• Uroporphyrinogen synthase deficiency
• UPS deficiency
• Porphyria, Swedish type
• Hydroxymethylbilane synthase deficiency
• HMBS deficiency