What is Acute intermittent porphyria?
• Acute intermittent porphyria: A rare metabolic disorder characterized by a deficiency in the porphobilinogen deaminase enzyme which results in a build-up of porphyrins or its precursors in the body. Using certain drugs or eating certain foods can trigger the symptoms of the condition. • Acute intermittent porphyria: An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine. Source – Diseases Database Acute intermittent porphyria is listed as a “rare disease” by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Acute intermittent porphyria, or a subtype of Acute intermittent porphyria, affects less than 200,000 people in the US population.
