Two long-haired Siamese cats are reported with clinical manifestations of human mucopolysaccharidosis VI (Maroteaux-Lamy disease): facial dysmorphia, dysostosis multiplex, paralysis. Urine of the two affected animals contained a high concentration of glycosaminoglycans, as detected by the dimethylmethylene blue test. Qualitative analysis, performed by thin-layer chromatography of the cetylpyridinium chloride-precipitable material, showed dermatan sulphate. Excessive incorporation of [35S]sulphate in the intracellular mucopolysaccharide of cultured fibroblasts and deficiency of arylsulphatase B in such cells indicate that these cats are affected by Maroteaux-Lamy disease. They should thus be considered the first European case of feline mucopolysaccharidosis VI.

Animal models for lysosomal storage diseases: a new case of feline mucopolysaccharidosis VI / Natale, P. D.; Annella, T.; Daniele, A.; Spagnuolo, G.; Cerundolo, R.; Caprariis, D. d.; Gravino, ANGELO ELIO. - In: JOURNAL OF INHERITED METABOLIC DISEASE. - ISSN 0141-8955. - STAMPA. - 15:(1992), pp. 17-24.

Animal models for lysosomal storage diseases: a new case of feline mucopolysaccharidosis VI.

A. Daniele;GRAVINO, ANGELO ELIO
1992

Abstract

Two long-haired Siamese cats are reported with clinical manifestations of human mucopolysaccharidosis VI (Maroteaux-Lamy disease): facial dysmorphia, dysostosis multiplex, paralysis. Urine of the two affected animals contained a high concentration of glycosaminoglycans, as detected by the dimethylmethylene blue test. Qualitative analysis, performed by thin-layer chromatography of the cetylpyridinium chloride-precipitable material, showed dermatan sulphate. Excessive incorporation of [35S]sulphate in the intracellular mucopolysaccharide of cultured fibroblasts and deficiency of arylsulphatase B in such cells indicate that these cats are affected by Maroteaux-Lamy disease. They should thus be considered the first European case of feline mucopolysaccharidosis VI.
1992
Animal models for lysosomal storage diseases: a new case of feline mucopolysaccharidosis VI / Natale, P. D.; Annella, T.; Daniele, A.; Spagnuolo, G.; Cerundolo, R.; Caprariis, D. d.; Gravino, ANGELO ELIO. - In: JOURNAL OF INHERITED METABOLIC DISEASE. - ISSN 0141-8955. - STAMPA. - 15:(1992), pp. 17-24.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/480821
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