DEFICIT IN NEURAMINIDASE ASSOCIATED WITH MUCOLIPIDOSIS-2 (I-CELL DISEASE)

Abstract

Using a 3H- sialyloligosaccharide as a substrate, mucolipidosis II was shown to be characterized by a lack of neuraminidase activity in leukocytes, while the other acidic hydrolases activities are normal. According to Ashwell terminal galactose is the required signal for glycoproteins uptake by the cells. A neuraminidase deficit may explain the increase of sialylated hydrolases activities in the plasma and the non-recognition of these enzymes by cultured fibroblasts.