Neuraminidase activities in sialidosis and mucolipidosis.
Defects of neuraminidase activities towards sialyloligosaccharides in fibroblasts and leucocytes and enhanced excretion of sialyloligosaccharides in urine were shown in patients with adult type sialidosis with partial deficiency of beta-galactosidase and cherry red spot-myoclonus syndrome. No differences in their neuraminidase residual levels and urinary excretion patterns on thin-layer chromatography were found between these two disorders. In mucolipidosis II and III patients, the neuraminidase activities towards sialyloligosaccharides were almost normal in leucocytes, although decreased in fibroblasts. The discrepancy of neuraminidase activities towards 2 leads to 3 and 2 leads to 6 sialyloligosaccharide isomers was not noticed in all cases.
D002855:Chromatography, Thin Layer / Q000379:methods; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D009081:Mucolipidoses / Q000201:enzymology* / Q000235:genetics; D009207:Myoclonus / Q000201:enzymology* / Q000235:genetics; D009439:Neuraminidase / Q000172:deficiency* / Q000378:metabolism; D009844:Oligosaccharides / Q000652:urine*; D010641:Phenotype; D012794:Sialic Acids / Q000652:urine*
D009844:Oligosaccharides; D012794:Sialic Acids; C016735:sialooligosaccharides; D009439:Neuraminidase