Hepatoerythropoietic porphyria | |
---|---|
Other names | HEP [1] |
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). [2] [3]: 525
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.
Hepatoerythropoietic porphyria | |
---|---|
Other names | HEP [1] |
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). [2] [3]: 525
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.