Urinary acid mucopolysaccharides in multiple sulfatase deficiency (mucosulfatidosis).
Urinary acid mucopolysaccharides (AMPS) excretion was investigated in a Japanese case with Multiple Sulfatase Deficiency (MSD) (Mucosulfatidosis). The patient excreted AMPS 4 to 5 times more (as carbazoluronic acid) than controls. The cellulose acetate gel electrophoresis clearly indicated two major AMPS which co-migrated with heparan sulfate and chondroitin sulfate A/C. Enzymic digestion with chondroitinase AC and ABC, and by testicular hyaluronidase plus amino sugar analysis also confirmed that our case excreted heparan sulfate and chondroitin sulfate A/C. These findings suggest that there are heterogeneities of urinary AMPS excretion among cases with MSD.
D002648:Child; D002809:Chondroitin Sulfates / Q000652:urine; D006025:Glycosaminoglycans / Q000652:urine*; D006497:Heparan Sulfate / Q000652:urine; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000652:urine*; D008297:Male; D013429:Sulfatases / Q000172:deficiency
D002809:Chondroitin Sulfates; D006025:Glycosaminoglycans; D006497:Heparan Sulfate; D013429:Sulfatases