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) (MIM number): 248500

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.

Reference


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.

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  • Created by Frank Nicholas on 06 Sep 2005