title: Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model of Maroteaux-Lamy syndrome.
abstract: A Siamese cat that presented clinical signs similar to those seen in humans with mucopolysaccharidoses was studied. The animal excreted increased amounts of polymeric glycosaminoglycans in the urine, consisting almost entirely of dermatan sulfate. Electron microscopy of circulating polymorphonuclear leukocytes revealed the presence of many membrane-bound lamellar inclusion bodies. Sulfate incorporation studies with cultured skin fibroblasts indicated defective glycosaminoglycan degradation. These cells showed a deficiency in arylsulfatase B activity. The disorder appears similar or identical to the Maroteaux-Lamy syndrome described in humans.
mesh_terms: D000818:Animals; D002371:Cat Diseases / Q000378:metabolism* / Q000473:pathology; D002415:Cats; D002803:Chondro-4-Sulfatase / Q000172:deficiency*; D004195:Disease Models, Animal; D005347:Fibroblasts / Q000378:metabolism; D006025:Glycosaminoglycans / Q000096:biosynthesis / Q000652:urine; D008247:Lysosomes / Q000201:enzymology; D008854:Microscopy, Electron; D009083:Mucopolysaccharidoses / Q000662:veterinary*; D009087:Mucopolysaccharidosis VI / Q000378:metabolism / Q000473:pathology / Q000662:veterinary*; D009504:Neutrophils / Q000648:ultrastructure; D012867:Skin / Q000473:pathology; D013429:Sulfatases / Q000172:deficiency*; D013431:Sulfates / Q000378:metabolism
chemical_list: D006025:Glycosaminoglycans; D013431:Sulfates; D013429:Sulfatases; D002803:Chondro-4-Sulfatase