Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria.

doi:10.1007/BF00197173

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Article

Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria.

Human genetics - 1 Aug 1991

Lee J S, Lundin G, Lannfelt L, Forsell L, Picat C, Grandchamp B, Anvret M

Abstract excerpt

Acute intermittent porphyria (AIP) is an autosomal dominant metabolic disorder affecting the enzyme porphobilinogen (PBG) deaminase in the heme biosynthetic pathway. The highest prevalence of the disorder has been observed in Scandinavia, especially in northern Sweden (Lappland) where it occurs with a prevalence of 1 in 1500. Biochemical assays of the activity and concentration of PBG deaminase in red blood...

Topics

Alleles
Base Sequence
Enzyme-Linked Immunosorbent Assay
Female
Genetic Variation
Genetics, Population
Haplotypes
Humans
Hydroxymethylbilane Synthase
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Nucleic Acid Hybridization

Oligonucleotide Probes

Pedigree

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Porphyrias

Source

Open in PubMed

Identifiers

PMID: 1679034
DOI: 10.1007/BF00197173

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1679034-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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