Porphyria, Hepatoerythropoietic

Porfyri, hepatoerytropoietisk

Engelsk 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.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Hepatoerythropoietic Porphyrias Porphyrias, Hepatoerythropoietic Porphyria, Erythrohepatic Erythrohepatic Porphyria Erythrohepatic Porphyrias Porphyrias, Erythrohepatic Hepatoerythropoietic Porphyria