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]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
