acute intermittent porphyria
(AIP) an autosomal dominant hepatic porphyria caused by mutation in the HMBS gene (locus: 11q23.3), which encodes hydroxymethylbilane synthase; it is manifested by recurrent attacks of abdominal pain, gastrointestinal dysfunction, and neurologic disturbances and by excessive amounts of δ-aminolevulinic acid and porphobilinogen in the urine. Called also acute p., intermittent acute p., Swedish p., and pyrroloporphyria.
Medical dictionary.
2011.