hepatoerythropoetic porphyria

hepatoerythropoetic porphyria

An autosomal recessive disorder (OMIM:176100) characterised by severe cutaneous porphyria that develops in infancy. Levels of uroporphyrinogen decarboxylase are very low in erythrocytes.

Molecular pathology
Caused by defects of UROD, which encodes uroporphyrinogen decarboxylase, an enzyme in the heme biosynthetic pathway.