Abstract
Congenital erythropoietic porphyria (CEP) or Günther’s disease is a rare disorder of heme biosynthesis resulting from decreased uroporphyrinogen III synthase (UROS) activity.1,2 In most cases, CEP is a genetic disorder caused by pathogenic germline variants in either UROS or GATA1.3 A small number of late-onset patients with underlying myeloid malignancy, termed acquired erythropoietic uroporphyria (AEU) have been reported with clinical and biochemical features of CEP without detectable pathogenic gene variants.
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.
