What is another word for Congenital Erythropoietic Porphyrias?
Pronunciation: [kənd͡ʒˈɛnɪtə͡l ˌɜːɹɪθɹˌɒpɔ͡ɪˈɛtɪk pɔːfˈɪɹi͡əz] (IPA) 
Congenital Erythropoietic Porphyrias, also known as CEP, is a rare genetic disorder that affects the production of heme, a component of hemoglobin. Individuals with CEP experience photosensitivity, anemia, and porphyrin buildup in various organs. Several synonyms exist for this condition, such as Gunther disease, erythropoietic porphyria, and CEPD. These terms are often used interchangeably to reference the same disorder. The condition is caused by mutations in the uroporphyrinogen III synthase gene, leading to the impairment of heme production. While there is currently no cure for Congenital Erythropoietic Porphyrias, management includes avoiding sunlight exposure, receiving blood transfusions, and taking medications to alleviate symptoms.
