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Article

Porphobilinogen deaminase gene mutations in Polish patients with non-erythroid acute intermittent porphyria.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University - 1 Jan 2000

Szlendak Urszula, Lipniacka Agnieszka, Bianketti Jolanta, Podolak-Dawidziak Maria, Bykowska Ksenia

Abstract excerpt

BACKGROUND: Acute intermittent porphyria (AIP) is an metabolic disorder characterized by a partial deficiency of the porphobilinogen deaminase, the enzyme of heme biosynthesis. The metabolic defect in AIP involves an approximately half-normal activity of porphobilinogen deaminase (PBGD, EC 4.3.1.8), the enzyme catalyzing condensation of four porphobilinogen molecules to hydroxymethylbilane. Due to tissue-specific...

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PMID: 25923088
DOI: 10.17219/acem/34555

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AIP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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