OMIA 000625-9940 : Mannosidosis, alpha in Ovis aries
In other species: cattle , domestic cat , domestic guinea pig , goat Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 248500 (trait) , 609458 (gene) Mendelian trait/disorder: yes Considered a defect: yes Key variant known: no Cross-species summary: A lysosomal storage disease in which there is a buildup (storage) of mannose-rich compounds, due to the lack of the enzyme alpha-mannosidase, whose task is to cleave mannose from such compounds. Clinical signs include ataxia, head tremor, aggression, and finally paralysis and death.
|1995||Stegelmeier, B.L., James, L.F., Panter, K.E., Molyneux, R.J. :|
|Serum swainsonine concentration and alpha-mannosidase activity in cattle and sheep ingesting Oxytropis sericea and Astragalus lentiginosus (locoweeds) American Journal of Veterinary Research 56:149-154, 1995. Pubmed reference: 7717575.|
- Created by Frank Nicholas on 06 Sep 2005