OMIA:001243-9685 : Alkaptonuria in Felis catus (domestic cat)
Categories: Renal / urinary system phene
Links to MONDO diseases:
Mendelian trait/disorder: unknown
Considered a defect: yes
Species-specific description: The three characteristic features of alkaptonuria are homogentisic aciduria, ochronosis, and arthritis (Azami and Maleki, J Res Med Sci. 2015 Oct; 20(10): 1018–1019.) The basic cause is deficiency of the enzyme homogentisate 1,2-dioxygenase (HGD). As explained by Bryan et al. (2016), "When HGD is absent or nonfunctional, a melanin-like pigment derivative of HGA, benzoquinoneacetate, accumulates in tissues and alters collagen cross-linking, causing joint pain and cartilage degeneration".
History: Bryan et al. (2016) were the first to report ochronosis "histologically and ulstrastructurally in a domestic animal species".
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
|2016||Bryan, L.K., Weeks, B.R., Payne, H.R., Thompson, L.A., Mansell, J.L. :|
|Ochronosis-like condition in a cat Veterinary Dermatology , 2016. DOI: 10.1111/vde.12326.|
- Created by Frank Nicholas on 27 May 2016
- Changed by Frank Nicholas on 27 May 2016