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Lysosomal storage diseases in dogs and cats
Author(s) -
Evans R. J.
Publication year - 1989
Publication title -
journal of small animal practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.7
H-Index - 67
eISSN - 1748-5827
pISSN - 0022-4510
DOI - 10.1111/j.1748-5827.1989.tb01521.x
Subject(s) - medicine , cats , enzyme , enzyme deficiency , lysosomal storage disease , disease , heterozygote advantage , physiology , endocrinology , biochemistry , biology , gene , allele
Lysosomal storage diseases are inborn errors of metabolism which are common in a number of breeds of dog and cat, due to specific, genetically determined, deficiencies of degradative enzymes. They are generally inherited as autosomal recessive traits. The enzyme substrate may be a complex lipid, glycoprotein or polysaccharide. In enzyme deficiency this substrate accumulates in swollen lysosomes in specific organs. Assay of the enzyme can be employed to detect affected individuals and also heterozygotes. It is possible to control these diseases by the identification of heterozygous animals and refraining from using them for breeding. Affected animals are normal at birth but the onset of disease is generally during the first months of life. The diseases are progressive and fatal. Neurological signs, hepato‐ and splenomegaly and skeletal abnormalities are commonly seen.