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Article

Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.

The FEBS journal - 1 Apr 2009

Ulbrichova Dana, Hrdinka Matous, Saudek Vladimir, Martasek Pavel

Abstract excerpt

Acute intermittent porphyria is an autosomal dominantly inherited disorder, classified as acute hepatic porphyria, caused by a deficiency of hydroxymethylbilane synthase (EC 2.5.1.61, EC 4.3.1.8, also known as porphobilinogen deaminase, uroporphyrinogen I synthase), the third enzyme in heme biosynthesis. Clinical features include autonomous, central, motor or sensory symptoms, but the most common clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 19292878
DOI: 10.1111/j.1742-4658.2009.06946.x

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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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