β-Glucuronidase Deficiency in a Dog: a Model of Human Mucopolysaccharidosis VII

摘要: Summary: This report describes a third mucopolysaccharidosis in animals: canine VII. The affected dog was the offspring of father-daughter mating. Weakness rear legs evident at 8 weeks age and became progressively worse. He had large head, shortened maxilla, corneal granularities. Most joints were extremely lax, easily subluxated, with joint capsules that swollen fluctuant. alert apparently normal pain perception. At 13 months age, there radiographic evidence extensive skeletal disease including bilateral femoral head luxation, abnormalities shape density carpal tarsal bones, radiolucent lesions epiphyseal regions most long cervical vertebral dysplasia platyspondylia. electrophoretic pattern precipitated glycosaminoglycans indicated predominance chondroitin sulfate. animal died suddenly from gastric dilatation. There generalized hepatomegaly, thickening atrioventricular heart valves, polyarthropathy. Vacuolated cytoplasm observed hepatocytes, keratocytes, fibroblasts, chondrocytes cells synovial membrane, retinal pigment epithelium, cardiac valves. Neurons cytoplasmic vacuoles. Electron microscopy demonstrated membrane-bound inclusions polymorphonuclear leukocytes, synovium, valves spleen. activities 12 lysosomal hydrolases determined liver control dogs: β-glucuronidase (EC 3.2.1.31), β-hexosaminidases A B 3.2.1.30), α-hexosaminidase 3.2.1.-), α-L-iduronidase 3.2.1.76), α-galactosidase 3.2.1.22), β-galactosidase 3.2.1.23), arylsulfatases 3.1.6.1), acid α-mannosidase 3.2.1.24), β-mannosidase 3.2.1.25), N-acetyl-D-galactosamine-6-sulfate sulfatase 3.1.6.-). activity reduced to less than 2% mean value controls.