Hepatoerythropoietic porphyria
| Hepatoerythropoietic porphyria | |
|---|---|
| Other names | HEP |
| UroD drawn from PDB: 1URO. | |
| Specialty | Dermatology, gastroenterology, medical genetics, endocrinology |
Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase (UROD).: 525
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.