Hepatoerythropoietic porphyria
Encyclopedia
Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria
caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase
(UROD).
It has a similar presentation to porphyria cutanea tarda
(PCT), but with earlier onset. In classifications which define PCT type 1 as "sporadic" and PCT type 2 as "familial", hepatoerythropoietic porphyria is more similar to type 2.
Hepatic porphyria
Hepatic porphyrias is a form of porphyria in which the enzyme deficiency occurs in the liver.Examples include :* Acute intermittent porphyria* Porphyria cutanea tarda and Hepatoerythropoietic porphyria...
caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase
Uroporphyrinogen III decarboxylase
Uroporphyrinogen decarboxylase, also known as UROD, is an enzyme that in humans is encoded by the UROD gene.- Function :This gene encodes the fifth enzyme of the heme biosynthetic pathway...
(UROD).
It has a similar presentation to porphyria cutanea tarda
Porphyria cutanea tarda
Porphyria cutanea tarda is the most common subtype of porphyria. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs...
(PCT), but with earlier onset. In classifications which define PCT type 1 as "sporadic" and PCT type 2 as "familial", hepatoerythropoietic porphyria is more similar to type 2.