caa a22 4500 46904487X CHVBK 20180323132821.0 cr unu---uuuuu 170328e19920901xx s 000 0 eng 10.1007/BF01800018 doi (NATIONALLICENCE)springer-10.1007/BF01800018 N -acetylglucosamine 6-sulphatase deficiency in a Nubian goat: A model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID) [Elektronische Daten] [J. Thompson, M. Jones, G. Dawson, P. Huffman] Summary: A male Nubian goat (SD-1) presented at birth with neurological manifestations consistent with a lysosomal storage disease. Histological studies of tissue obtained at autopsy suggested glycosaminoglycan storage. Total urinary glycosaminoglycan levels, as measured by the uronic acid method, were elevated but overlapped with levels in a younger control goat. However,N-sulphate content was increased 2- to 5-fold, suggestive of heparan sulphate excretion, and this elevation was confirmed by cellulose acetate electrophoresis. Further, urinary levels of freeN-acetylglucosamine 6-sulphate were increased 6-fold over controls, SD-1 cultured skin fibroblasts, labelled with [35S]sulphate, incorporated twice as much radioactivity into macromolecular material as did normal fibroblasts. Forty-eight hours after removal of [35S]sulphate from the medium the SD-1 fibroblasts retained 58% of the label, whereas in control fibroblasts it had declined to 20%, indicative of [35S]proteoglycan storage in SD-1. The assay of fibroblast extracts revealed a profound deficiency ofN-acetylglucosamine 6-sulphatase whereas eight other activities includingβ-mannosidase, arylsulphatase B, iduronate 2-sulphatase,N-acetylgalactosamine 6-sulphatase, and heparin sulphamidase were normal. Mixing of SD-1 sonicates with normal sonicates showed no evidence of an inhibitor, and mixing of SD-1 sonicates with Sanfilippo D cell sonicates yielded no activity. These data ruled out multiple sulphatase deficiency and suggested the first example of the human Sanfilippo syndrome, type D (N-acetylglucosamine 6-sulphatase deficiency) in goats. SSIEM and Kluwer Academic Publishers, 1992 Thompson J. Laboratory of Medical Genetics and Departments of Biochemistry and Pediatrics, University of Alabama at Birmingham, 609 Sparks Center, 35294, Birmingham, AL aut Jones M. Department of Pathology, Michigan State University, 48824, East Lansing, MI aut Dawson G. Department of Pediatrics, University of Chicago, 60637, Chicago, IL, USA aut Huffman P. Laboratory of Medical Genetics and Departments of Biochemistry and Pediatrics, University of Alabama at Birmingham, 609 Sparks Center, 35294, Birmingham, AL aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/5(1992-09-01), 760-768 0141-8955 15:5<760 1992 15 10545 https://doi.org/10.1007/BF01800018 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01800018 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Thompson J. Laboratory of Medical Genetics and Departments of Biochemistry and Pediatrics, University of Alabama at Birmingham, 609 Sparks Center, 35294, Birmingham, AL aut NATIONALLICENCE 700 1- Jones M. Department of Pathology, Michigan State University, 48824, East Lansing, MI aut NATIONALLICENCE 700 1- Dawson G. Department of Pediatrics, University of Chicago, 60637, Chicago, IL, USA aut NATIONALLICENCE 700 1- Huffman P. Laboratory of Medical Genetics and Departments of Biochemistry and Pediatrics, University of Alabama at Birmingham, 609 Sparks Center, 35294, Birmingham, AL aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/5(1992-09-01), 760-768 0141-8955 15:5<760 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer