OMIA:001175-9823 : Porphyria, congenital erythropoietic in Sus scrofa (pig)
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 263700 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: no
Cross-species summary: Porphyrins are a class of organic compounds characterised by four pyrrole nuclei connected in a ring structure. When combined with iron, porphyrins form haem, which is a component of haemoglobin, cytochromes, catalases and peroxidases. Thus, porphyrins are constituents of many compounds that play a vital role in biological systems. The biosynthesis of porphyrins involves a six-step process, starting with aminolaevulinic acid (ALA) and ending with protoporphyrin. Each step is catalysed by an enzyme. A deficiency of any one of these enzymes results in a buildup of intermediates prior to the step for which the enzyme is lacking, and a deficiency of intermediates after that step. In much of the literature, these intermediates are loosely called porphyrins. Congenital eryhtropoietic porphyria results from a deficiency of the third enzyme, uroporphyrinogen III cosynthetase, and a consequent buildup of intermediates (i.e. a buildup of porphyrins) that have been synthesised in the three previous steps.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|1995||Roels, S., Hassoun, A., Hoorens, J. :|
|Accumulation of Protoporphyrin Isomers-I and Isomers-III, and Multiple Decarboxylation Products of Uroporphyrin in a Case of Porphyria in a Slaughtered Pig Journal of Veterinary Medicine Series A - Zentralblatt Fur Veterinarmedizin Reihe A - Physiology Pathology Clinical Medicine 42:145-151, 1995. Pubmed reference: 8592889.|
|1985||Rimington, C., Moore, MR. :|
|Porphyria in animals. Clin Dermatol 3:144-55, 1985. Pubmed reference: 3880043.|
|1980||Yamashita, C., Shimazaki, H., Miyake, T., Saitoh, M., Saheki, Y., Ishitani, R. :|
|Congenital porphyria in swine Japanese Journal of Veterinary Science 42:353-359, 1980. Pubmed reference: 7218619.|
|1963||Jorgensen, S.K. :|
|Porphyria in domestic animals: Danish observations in pigs and cattle and comparison with human porphyria Annals of the New York Academy of Sciences 104:701-709, 1963. Pubmed reference: 13964925.|
|1955||Jorgensen, S.K., With, T.K. :|
|Congenital porphyria in swine and cattle in Denmark Nature 176:156-158, 1955. Pubmed reference: 13244638.|
- Created by Frank Nicholas on 06 Sep 2005