intermittent acute porphyria

Definition: porphyria caused by hepatic overproduction of ΄-aminolevulinic acid, with greatly increased urinary excretion of it and of porphobilinogen, and some increase of uroporphyrin, due to a deficiency of porphobilinogen deaminase; characterized by intermittent acute attacks of hypertension, abdominal colic, psychosis, and polyneuropathy, but with no photosensitivity; autosomal dominant inheritance, caused by mutation in the human porphobilinogen deaminase gene on 11q24; exacerbation caused by ingestion of certain drugs (barbiturates).

Synonym(s): acute intermittent porphyria, acute porphyria

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