Animal models of inherited metabolic diseases : proceedings of the International Symposium on Animal Models of Inherited Metabolic Disease held in Bethesda, Maryland, October 19-20, 1981 / editors: Robert J. Desnick, Donald F. Patterson, Dante G. Scarpelli.
- International Symposium on Animal Models of Inherited Metabolic Disease (1981 : Bethesda, Md.)
- Date:
- [1982]
Licence: Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)
Credit: Animal models of inherited metabolic diseases : proceedings of the International Symposium on Animal Models of Inherited Metabolic Disease held in Bethesda, Maryland, October 19-20, 1981 / editors: Robert J. Desnick, Donald F. Patterson, Dante G. Scarpelli. Source: Wellcome Collection.
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![1981). This animal model is of particular interest since the analogous human disorder has not been identified to date. In addition to the well-characterized bovine model of a-mannosidosis (Hocking et_ aj_., 1972; Phillips et al., 1974), a second model has been identified in a domestic kitten which presented with neurologic manifestations, dysmorphic features and growth retardation (Burditt et al., 1980). Characterization of the residual acid a-mannosidase activity and urinary mannose-rich oligosaccharides suggest ed that the feline disease was similar to the severe form of human mannosidosis (Sung et_ al., 1977), whereas the bovine model was more analogous to the milder human variant (Desnick et_ al_., 1976). Hopefully, a breeding colony for the feline disease can be established, since this model would be more convenient for therapeutic and other studies than the bovine analogue. Three new models of human glycosphingolipidoses have been identified. Canine Gaucher type 2 disease has been described in several affected dogs in Australia. The de ficiency of acid p-glucosidase and the accumulation of glucosyl ceramide and glucosyl psychosine have been demon strated (Van de Water et al_., 1979; Farrow et_ a]_., 1982). Efforts are currently underway to develop an enzymatic test to identify canine carriers of the Gaucher gene so that appropriate matings can be made and a colony established. A second model of human Krabbe disease (galactosyl cer amide: p-galactosidase deficiency) has been identified in mice with the twitcher mutation (Duchen et_ al_., 1980). The availability of this model should permit intensive study of the globoid cell reaction which is the character istic neuropathologic finding in the human disease. Anal ogues of the human neurodegenerative disorder, Niemann-Pick Type A disease, have been reported in Siamese cats (Wenger et al., 1980) and poodles (Bundza et aj_., 1979). These animals should provide insight into the interrelationships among the sphingomyelinase isozymes in health and disease. Finally, a feline model of human mucopolysaccharidosis I-H (Hurler disease) due to deficient a-L-iduronidase activity has been identified and a breeding colony has been established (Haskins ejt aj_., 1979a). This is the second recognized analogue of a human mucopolysaccharidosis, the other being Type VI (Maroteaux-Lamy disease). The avail ability of these two models, one characterized by neuro logic involvement (MPS I-H) and the other only by visceral](https://iiif.wellcomecollection.org/image/b18027842_0055.JP2/full/800%2C/0/default.jpg)
