Porphyria, Hepatoerythropoietic

**Definition:** An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating.

**Tree numbers:** - C06.552.830.437 - C16.320.850.742.437 - C17.800.827.742.437 - C18.452.811.400.437

**Synonyms:** - Hepatoerythropoietic Porphyria - Porphyria, Erythrohepatic