Hepatoerythropoietic porphyria
Other namesHEP[1]
UroD drawn from PDB: 1URO​.
SpecialtyDermatology, gastroenterology, medical genetics, endocrinology Edit this on Wikidata

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.

See also

References

  1. ^ "Hepatoerythropoietic porphyria | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 14 January 2020. Retrieved 17 April 2019.
  2. ^ Phillips, JD; Whitby, FG; Stadtmueller, BM; Edwards, CQ; et al. (February 2007). "Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP)". Translational Research. 149 (2): 85–91. doi:10.1016/j.trsl.2006.08.006. PMID 17240319.
  3. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
  4. ^ "hepatoerythropoietic porphyria""at Dorland's Medical Dictionary

External links


Classification
Heme metabolism disorders
Categories