Saturday, May 4, 2013
CEP~ What is it?
This disease is extremely rare and is autosomal recessive. It is also known as Gunther's disease. The deficient enzyme is uroporphyrinogen III cosynthase (or uroporphyrinogen III synthase). Various mutations in the gene for this enzyme have been identified in different families. As is characteristic of the erythropoietic porphyrias, symptoms begin during infancy. Sometimes CEP is recognized as a cause of anemia in a fetus before birth. In less severe cases symptoms may begin during adult life. Porphyrins are markedly increased in bone marrow, red blood cells, plasma, urine and feces. Porphyrins are also deposited in the teeth and bones.
Remember.....Research is the key to your cure!
Type of Porphyria: Acute Intermittent Porphyria (AIP) Sive Ngalo of Ekasi Hub interviewed Athi Koti. Below is my story ...
Erythropoietic Protoporphyria What is erythropoietic protoporphyria? The word ‘erythropoietic’ means associated with red blood cells (‘...
Happy Thanksgiving everyone 2017
#PAW2018 This year, each day we will bring you a member story of each type, a Medical Fact on each type, Medications approved ...