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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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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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