Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity.

Abstract excerpt

BACKGROUND AND DESIGN: Congenital erythropoietic porphyria, an inborn error of heme biosynthesis, results from the deficient activity of the enzyme uroporphyrinogen III synthase. The clinical manifestations in unrelated patients with this autosomal recessive disorder are remarkedly variable, rang...

Topics

• Adolescent
• Arginine
• Erythropoiesis
• Humans
• Male
• Mutation
• Pedigree
• Porphyrias
• Skin Diseases
• Uroporphyrinogen III Synthetase
• Uroporphyrins
• Valine