Abstract
A newly diagnosed South African case of congenital erythropoietic porphyria
Highlights
Congenital Erythropoietic Porphyria (CEP), named as Günther’s disease, is an extremely rare condition
A marked deficiency of uroporphyrinogen III synthase (UROS) enzyme leads to the accumulation of uroporphyrin 1 and coproporphyrin 1 isomers in all tissues of the body [2]
CF3R mutation of the UROS gene is accounting for 20% of the reported mutations in CEP [3]
Summary
Congenital Erythropoietic Porphyria (CEP), named as Günther’s disease, is an extremely rare condition. CEP has no racial predilection and occurs in both genders. It has a broad range in age (median 1.75 years, from 30 weeks’ gestation to 40 years), manifestations and varying severity at the onset of the disease [1]. A marked deficiency of uroporphyrinogen III synthase (UROS) enzyme leads to the accumulation of uroporphyrin 1 and coproporphyrin 1 isomers in all tissues of the body [2]. The genetic defect is most commonly in the gene encoding UROS enzyme in an autosomal recessive manner, and rarely in the GATA1 gene as an X-linked manner. CF3R mutation of the UROS gene is accounting for 20% of the reported mutations in CEP [3]
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