Intracytoplasmic accumulations of a complex of glycoprotein and acid mucopolysaccharide in the central nervous system (PAS positive Lafora bodies), associated with seizures in familial progressive myoclonic epilepsy (Lafora's disease) in humans, and also reported in some breeds of dogs, particularly longhaired Dachshunds. Affected dogs have two copies of a mutation in the canine Eph26 gene.
Glycoproteinosis
| Veterinary Dictionary: glycoproteinosis |
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| Wikipedia: Glycoproteinosis |
| Glycoproteinosis | |
| Classification and external resources | |
| ICD-10 | E77. |
|---|---|
| ICD-9 | 271, 272.7 |
| eMedicine | / |
Glycoproteinosis (or "glycoprotein storage disorders") are lysosomal storage diseases affecting glycoproteins, resulting from defects in lysosomal function.
Types
- (E77.0) Defects in post-translational modification of lysosomal enzymes
- Mucolipidosis II (I-cell disease)
- Mucolipidosis III (pseudo-Hurler polydystrophy)
- (E77.1) Defects in glycoprotein degradation
Another type, recently characterized, is galactosialidosis.[1]
References
- ^ Bonten EJ, Wang D, Toy JN, et al. (June 2004). "Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis". FASEB J. 18 (9): 971–3. doi:. PMID 15084520. http://www.fasebj.org/cgi/pmidlookup?view=long&pmid=15084520.
External links
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 | Veterinary Dictionary. Saunders Comprehensive Veterinary Dictionary 3rd Edition. Copyright © 2007 by D.C. Blood, V.P. Studdert and C.C. Gay, Elsevier. All rights reserved. Read more |
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