Hepatoerythropoietic porphyria explained
| Hepatoerythropoietic porphyria |
| Width: | 150 |
| Synonyms: | HEP[1] |
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]
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.
See also
Notes and References
- Web site: Hepatoerythropoietic porphyria Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . rarediseases.info.nih.gov . 17 April 2019 . 14 January 2020 . https://web.archive.org/web/20200114130607/https://rarediseases.info.nih.gov/diseases/6169/disease . dead .
- Phillips . JD . Whitby . FG . Stadtmueller . BM . Edwards . CQ . Hill . CP . Kushner . JP . 4 . Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP) . . 149 . 2 . 85–91 . February 2007 . 17240319 . 10.1016/j.trsl.2006.08.006.
- Book: James, William D. . Berger, Timothy G. . Andrews' Diseases of the Skin: Clinical Dermatology . Saunders Elsevier . 2006 . 978-0-7216-2921-6 . etal.
