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Article

Molecular characterisation of acute intermittent porphyria in a cohort of South African patients and kinetic analysis of two expressed mutants.

Journal of clinical pathology - 1 Jun 2017

Fortgens Philip, Pienaar Elaine, Corrigall Anne, Sonderup Mark, Spearman C Wendy, Meissner Peter

Abstract excerpt

AIMS: Acute intermittent porphyria (AIP) is a disorder of the haem biosynthetic pathway caused by mutations in the hydroxymethylbilane synthase (HMBS) gene. Knowledge of the spectrum of mutations present in South Africa is limited. This study presents the molecular profile of 20 South African patients with AIP, and the kinetic analysis of one novel expressed mutated HMBS enzyme and a previously identified...

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Source

Identifiers

PMID: 27849156
DOI: 10.1136/jclinpath-2016-203907

Genes

HMBS
AIP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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