Hepatoerythropoietic Porphyria (HEP)
This very rare type of Porphyria is also due to a deficiency of uroporphyrinogen decarboxylase (UROD). The enzyme deficiency is inherited as an autosomal recessive trait. The manifestations of HEP resemble CEP, with symptoms of skin blistering usually beginning in infancy. Porphyrins are increased in bone marrow and red blood cells, in contrast to PCT, as well as liver, plasma, urine and feces.
