Congenital erythropoietic porphyria. A case report with discussion of different porphyrin excretion patterns.
A 5-year-old girl with the classical clinical features of congenital erythropoietic porphyria (CEP) is described. Different types of CEP are discussed based on varying excretion patterns of porphyrins.
D002675:Child, Preschool; D004912:Erythrocytes / Q000032:analysis; D004920:Erythropoiesis; D005260:Female; D006801:Humans; D011164:Porphyrias / Q000151:congenital* / Q000378:metabolism; D011166:Porphyrins / Q000378:metabolism*
D011166:Porphyrins