The symptoms of CEP can be severe and include ... Congenital Erythropoietic Porphyria (CEP): A rare genetic disorder caused by a deficiency in the enzyme uroporphyrinogen III synthase, leading ...
It does not show any symptoms but may include pain in abdomen, rashes or darkening of skins, blood in urine etc. Diagnosis is based on the signs and symptoms of the condition. Treatments can help ...