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.

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  • Created by Frank Nicholas on 13 Oct 2011