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Animal models for lysosomal storage diseases: A new case of feline mucopolysaccharidosis VI
Author(s) -
Di Natale P.,
Annella T.,
Daniele A.,
Spagnuolo G.,
Cerundolo R.,
Caprariis D.,
Gravino A. E.
Publication year - 1992
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800339
Subject(s) - glycosaminoglycan , cats , mucopolysaccharidosis , dermatan sulfate , lysosomal storage disease , medicine , chemistry , pathology , immunology , biology , endocrinology , disease , biochemistry , heparan sulfate
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 [ 35 S]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.