OMIA 001176-9823 : Porphyria cutanea tarda in Sus scrofa
In other species: sheep
Category: Homeostasis / metabolism phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 176100 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: yes
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. Porphyria cutanea tarda results from a deficiency of the fourth enzyme, uroporphyrinogen decarboxylase, and a consequent buildup of intermediates (i.e. a buildup of porphyrins) that have been synthesised in the three previous steps.
|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.|
- Created by Frank Nicholas on 06 Sep 2005