Deficiency

Abstract. A male cat 12-1 4 weeks old had walking difficulties and an enlarged abdomen. Facial dysmorphism, plump paws, corneal clouding, granulation of neutrophils, vacuolated lymphocytes, and a positive urine test for sulfated glycosaminoglycans suggested mucopolysaccharidosis. Cultured fibroblasts incorporated %O, into mucopolysaccharides more actively than did fibroblasts of a feline control, and degradation was far inferior. Activity of P-glucuronidase was absent in leukocytes and markedly reduced in fibroblasts, thus establishing the diagnosis of mucopolysaccharidosis VII, a disorder previously described in humans, dogs, and mice. Light microscopic examination revealed foam cells in virtually all organs examined, and electron microscopic ex-amination showed pancytic storage of floccular material characteristic of mucopolysaccharides. Stored sphin-golipids in the form of zebra bodies were seen in ganglion cells of the central nervous system and in smooth muscle cells of blood vessels. This case represents another animal model of mucopolysaccharidosis VII with the full disease characteristics known in human patients. Kqv words: P-glucuronidase deficiency; cats; lysosomal storage disease; mucopolysaccharidosis type VII. Mucopolysaccharidoses (MPS) are lysosomal stor-age disorders, each caused by the deficiency of a ly-sosomal hydrolase needed for the degradation of mu