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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.

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References[edit]

  1. 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.
  2. 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.
  3. Jump up^ "hepatoerythropoietic porphyria" at Dorland's Medical Dictionary

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