Hepatoerythropoietic porphyria
Medical condition
From Wikipedia, the free encyclopedia
Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase (UROD).[2][3]: 525
Other namesHEP[1]
| Hepatoerythropoietic porphyria | |
|---|---|
| Other names | HEP[1] |
| |
| UroD drawn from PDB: 1URO. | |
| Specialty | Dermatology, gastroenterology, medical genetics, endocrinology  |
It has a similar presentation to porphyria cutanea tarda (PCT), but with earlier onset.[4] In classifications which define PCT type 1 as "sporadic" and PCT type 2 as "familial", hepatoerythropoietic porphyria is more similar to type 2.
