Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family.

doi:10.1007/s10545-008-0924-8

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Article

Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family.

Journal of inherited metabolic disease - 1 Dec 2008

Schneider-Yin X, Mamet R, Minder E I, Schoenfeld N

Abstract excerpt

Erythropoietic protoporphyria (EPP) is a rare hereditary disorder due to a partial deficiency of ferrochelatase (FECH). The genotype of EPP patients features a mutation on one allele of the FECH gene and a common hypomorphic FECH IVS3-48c on the other allele (M/c). The resulting enzyme activity in patients is ∼35% of that in normal individuals. Ferrochelatase deficiency results in the accumulation of...

Topics

Adolescent
Adult
Biomarkers
DNA Mutational Analysis
Erythrocytes
Female
Ferrochelatase
Genetic Predisposition to Disease
Heredity
Humans
Jews
Male
Mutation
Pedigree
Phenotype
Photosensitivity Disorders
Porphyria, Erythropoietic
Prognosis

Source

Open in PubMed

Identifiers

PMID: 18758989
DOI: 10.1007/s10545-008-0924-8

Genes

FECH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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