HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review.

Abstract excerpt

BACKGROUND: Acute intermittent porphyria (AIP) is caused by a partial deficiency of hydroxymethylbilane synthase and affects heme biosynthesis. Mutations in the HMBS gene result in HMBS deficiency. AIP is a rare disease, and there been insufficient studies on it. This report describes the molecular epidemiology of HMBS gene defects and hydroxymethylbilane synthase activity levels in classical AIP. METHODS:...

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