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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![specific enzyme. At the metabolic level, the enzymatic deficiency causes a block resulting in either the accumu lation of the substrate(s) [and precursor(s)] and/or the absence of a critical metabolic product; the metabolic abnormalities lead to the physiologic and phenotypic mani festations characteristic of the specific enzymatic defect. Table 1 lists the animal models of human lysosomal storage diseases; the disorders are classified as glycogen oses, glycoproteinoses, glycosphingolipidoses or mucopoly saccharidoses on the basis of the primary accumulated substrate. Although other models of human lysosomal stor age diseases have been described (Andrews et al., 1979; Hommes, 1979), the criteria for inclusion in TaFle 1 was the actual demonstration of the same enzyme deficiency as in the analogous human disorder. Each of these models is inherited as an autosomal recessive trait. Recognition of the affected proband and/or identifi cation of the proband's parents or heterozygous relatives has permitted the establishment of active breeding colonies for cows with Pompe disease (Richards et_ aj_., 1977) and a-mannosidosis (Hocking ejt al_., 1972); goats with |i-manno- sidosis (Jones and Dawson, 1981); cats with G^.-ganglio- sidosis type 2 (Baker et_ al_., 1971), G^-gangtiosidosis type 2 (Cork et al_., 1977; Rattazzi et a_f., 1979), muco polysaccharidosis Type I-H (Haskins et al_., 1979a) and mucopolysaccharidosis Type VI (Haskins et al_., 1979b; McGovern et al., 1981); dogs with Niemann-Pick disease (Bundza et_ aTT, 1979); as well as dogs (Suzuki et_ al., 1970) and mice (Duchen et al_., 1980) with Krabbe disease. These models are the best characterized with respect to the clinical manifestations, natural history of the disease, morphologic pathology, and the nature of the metabolic defect [i.e., accumulated substrate(s) and deficient en zyme ]. Recently Recognized Models. Two new glycoprotein/oligosaccharide storage diseases have been described in animals. Nubian goats with a severe neurovisceral oligosaccharide storage disease recently have been shown to have deficient ji-mannosidase activity (Jones and Dawson, 1981) and the lysosomal accumulation of a p-mannosyl-containing trisaccharide (Jones and Laine,](https://iiif.wellcomecollection.org/image/b18027842_0054.JP2/full/800%2C/0/default.jpg)
