Congenital Erythropoietic Porphyria (CEP), also known as Günther's disease, is a rare, inherited, autosomal recessive disorder that affects the production of heme, an important component of hemoglobin in red blood cells. It is characterized by an enzyme deficiency called uroporphyrinogen III synthase, leading to the abnormal accumulation of porphyrins, specifically uroporphyrin and coproporphyrin, in the body.
CEP is characterized by various symptoms, including extreme sensitivity to sunlight (photosensitivity), severe blistering, scarring, and healing difficulties of the skin, as well as other tissues such as the gums and nose. Some individuals may also experience reddish discoloration of the teeth and bones, fragile bones (osteoporosis), and enlargement of the spleen (splenomegaly). In rare cases, hemolysis (breakdown of red blood cells) and anemia may occur.
The disorder is caused by mutations in the gene that encodes uroporphyrinogen III synthase, leading to a deficiency in this enzyme's activity. Because of this deficiency, porphyrins accumulate in the body, particularly in the bone marrow and skin, where they are exposed to light and trigger the adverse effects.
CEP is a life-long condition with no known cure; however, various treatment options can help manage the symptoms. These treatments include avoiding sunlight and using protective clothing, sunscreen, and sunglasses, as well as blood transfusions to alleviate anemia. Additionally, bone marrow transplantation may be considered in severe cases to potentially correct the enzyme deficiency. Genetic counseling is recommended for affected individuals and their families to understand the inheritance pattern and assess the risk of passing on the condition to future
