Summary
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.
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Di Natale, P., Annella, T., Daniele, A. et al. Animal models for lysosomal storage diseases: A new case of feline mucopolysaccharidosis VI. J Inherit Metab Dis 15, 17–24 (1992). https://doi.org/10.1007/BF01800339
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DOI: https://doi.org/10.1007/BF01800339