Info from Wikipedia:
Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase (UROD).[1][2]:525
It has a similar presentation to porphyria cutanea tarda (PCT), but with earlier onset.[3] 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[edit]
- Hereditary coproporphyria
- List of cutaneous conditions
- List of dental abnormalities associated with cutaneous conditions
References[edit]
- Jump up^ 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.
- Jump up^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
- Jump up^ "hepatoerythropoietic porphyria" at Dorland's Medical Dictionary
External links[edit]
- Hepatoerythropoietic porphyria at NLM Genetics Home Reference
- Hepatoerythropoietic porphyria at NIH's Office of Rare Diseases
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