BMC Res Notes 2017 Sep 12;10(1):476. Epub 2017 Sep 12.
Department of Medicine, School of Medicine and Health Sciences, Sana'a University, Sana'a, Yemen.
Background: Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase. This defect results in the accumulation of high amounts of uroporphyrin I in all tissues, leading to clinical manifestations ranging from mild to severe chronic damage of the skin, cartilage and bone. Read More