A- A+

Congenital Erythropoietic Porphyria

Congenital Erythropoietic Porphyria is a very rare form of porphyria inherited as an autosomal recessive trait associated with a deficiency in the enzyme activity of uroporphyrinogen cosynthetase. It occurs at a very young age. The urinary porphyrins are markedly increased and often stain the diapers red. There is a marked degree of photosensitivity leading to considerable disfiguration due to scarring of the skin along with an enlarged spleen and a hemolytic anemia but no neurologic findings. Total avoidance of sunlight is usually essential to prevent further disfiguration. This is the only type of porphyria that can be diagnosed prenatally, and is characterized by the finding of elevated uroporphyrin concentrations in the amniotic fluid.