title: Mucopolysaccharidosis in a domestic short-haired cat--a disease distinct from that seen in the Siamese cat.
abstract: A 10-month-old male domestic short-haired cat was examined because of progressive lameness, a broad face with depressed nasal bridge, small ears, corneal clouding, and multiple bone dysplasia. The cat excreted excessive amounts of glycosaminoglycan (a component of connective tissue) in its urine and had evidence of lysosomal storage of glycosaminoglycans in fibroblasts and neurons. Activity of alpha-L-iduronidase, a lysosomal enzyme involved in glycosaminoglycan degradation, was deficient in cultured fibroblasts and leukocytes. The mucopolysaccharidosis was distinct from that seen in Siamese cats in terms of the pathologic changes and the specific enzyme deficiency.
mesh_terms: D000818:Animals; D002371:Cat Diseases / Q000175:diagnosis*; D002415:Cats; D002478:Cells, Cultured; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007068:Iduronidase / Q000172:deficiency; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis / Q000662:veterinary*; D014048:Tolonium Chloride
chemical_list: D014048:Tolonium Chloride; D007068:Iduronidase