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Article

delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.

American journal of human genetics - 1 Jul 1991

Plewinska M, Thunell S, Holmberg L, Wetmur J G, Desnick R J

Abstract excerpt

delta-Aminolevulinate dehydratase deficient porphyria, a recently recognized inborn error of heme biosynthesis, results from the markedly deficient activity of the heme biosynthetic enzyme, delta-aminolevulinate dehydratase (ALA-D). The four homozygotes described to date with this disorder have r...

Topics

Aminolevulinic Acid
Base Sequence
Exons
Gene Amplification
Genotype
Homozygote
Humans
Infant
Male
Molecular Sequence Data
Mutation
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Porphobilinogen Synthase

Porphyrias

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Open in PubMed Open full text

Identifiers

PMID: 2063868
PMCID: PMC1683193

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2063868-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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