Animal models for lysosomal storage diseases: a new case of feline mucopolysaccharidosis VI.
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.
Di Natale
P
P
Dipartimento di Biochimica e Biotechnologie Mediche, II Facoltà di Medicina e Chirurgia, Università di Napoli, Italy.
Annella
T
T
Daniele
A
A
Spagnuolo
G
G
Cerundolo
R
R
de Caprariis
D
D
Gravino
A E
AE
D000818:Animals; D001842:Bone and Bones / Q000002:abnormalities; D002415:Cats; D002803:Chondro-4-Sulfatase / Q000172:deficiency / Q000235:genetics; D004195:Disease Models, Animal; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D008059:Mucopolysaccharidosis I / Q000473:pathology / Q000652:urine / Q000662:veterinary*
D006025:Glycosaminoglycans; D002803:Chondro-4-Sulfatase