Neuraminidase activity in liver and brain from patients with I-cell disease.
The activity of neuraminidase in liver and brain from I-cell disease (Mucolipidosis II) was investigated. Neuraminidase activities using two substrates [alpha-L-N-acetylneuraminosyl(2 leads to 3)lactose and alpha-L-N-acetylneuraminosyl(2 leads to 6)lactose] were reduced in the supernatant and sedimentable fractions obtained in isotonic KCl. The activity of beta-D-galactosidase was also reduced in the liver; on the other hand, both neuraminidase fractions were normal, although beta-galactosidase activities were markedly reduced. In view of these results, it is suggested that the defect of neuraminidase is not directly responsible for the primary etiology of I-cell disease.
D001921:Brain / Q000201:enzymology*; D006801:Humans; D007700:Kinetics; D008099:Liver / Q000201:enzymology*; D009081:Mucolipidoses / Q000201:enzymology*; D009439:Neuraminidase / Q000378:metabolism*; D013379:Substrate Specificity; D001616:beta-Galactosidase / Q000378:metabolism
D009439:Neuraminidase; D001616:beta-Galactosidase