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

ABSTRACT:

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

Databases of PubMed, CNKI, and Wang Fang Database were searched for eligible studies to investigate HMBS gene mutations in peripheral blood samples and HMBS activity in erythrocytes of patients with classical AIP. Relevant studies published up to July 15, 2023, from several databases were independently searched and selected by 2 reviewers. Accuracy data and relevant informat

SUBMITTER: Li S 

PROVIDER: S-EPMC10545320 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature