OMIA 000625-9925 : Mannosidosis, alpha in Capra hircus |
In other species:
domestic cat
,
cattle
,
sheep
,
domestic guinea pig
Possibly relevant human trait(s) and/or gene(s) (MIM number):
248500
Mendelian trait/disorder:
unknown
Considered a defect:
yes
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.
References
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.
| 2012 | Mendonça, F.S., Albuquerque, R.F., Evêncio-Neto, J., Freitas, S.H., Dória, R.G., Boabaid, F.M., Driemeier, D., Gardner, D.R., Riet-Correa, F., Colodel, E.M. : | |
| Alpha-mannosidosis in goats caused by the swainsonine-containing plant Ipomoea verbascoidea. J Vet Diagn Invest 24:90-5, 2012. Pubmed reference: 22362938. DOI: 10.1177/1040638711425948. | ||
| 2010 | Bedin, M., Moleta Colodel, E., Viapiana, M., Matte, U., Driemeier, D., Giugliani, R. : | |
| Alpha-mannosidase activity in goats fed with Sida carpinifolia. Exp Toxicol Pathol 62:191-5, 2010. Pubmed reference: 19428229. DOI: 10.1016/j.etp.2009.03.007. |
Edit History
- Created by Frank Nicholas on 13 Oct 2011