Haskins M E, Jezyk P F, Desnick R J, McDonough S K, Patterson D F
J Am Vet Med Assoc. 1979 Aug 15;175(4):384-7.
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.
一只10个月大的雄性家养短毛猫因进行性跛行、面部宽阔且鼻梁凹陷、耳朵小、角膜混浊和多处骨骼发育异常而接受检查。这只猫尿液中排泄出过量的糖胺聚糖(结缔组织的一种成分),并且在成纤维细胞和神经元中有糖胺聚糖溶酶体储存的证据。α-L-艾杜糖醛酸酶(一种参与糖胺聚糖降解的溶酶体酶)的活性在培养的成纤维细胞和白细胞中缺乏。就病理变化和特定酶缺乏而言,这种黏多糖贮积症与暹罗猫中所见的不同。