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Article

Acute intermittent porphyria: expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells.

Molecular medicine (Cambridge, Mass.) - 1 Aug 2000

Mustajoki S, Laine M, Lahtela M, Mustajoki P, Peltonen L, Kauppinen R

Abstract excerpt

BACKGROUND: Acute intermittent porphyria (AIP) is an autosomal dominant disorder that results from the partial deficiency of porphobilinogen deaminase (PBGD) in the heme biosynthetic pathway. Patients with AIP can experience acute attacks consisting of abdominal pain and various neuropsychiatric symptoms. Although molecular biological studies on the porphobilinogen deaminase (PBGD) gene have revealed several...

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Source

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Identifiers

PMID: 11055586
PMCID: PMC1949973

Genes

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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