Last update 01 Nov 2024

Porphyria, Acute Intermittent

Basic Info

Synonyms
AIP, AIP (acute intermittent porphyria), AIP - Acute intermittent porphyria
+ [85]
Introduction
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.

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