Cultured fibroblasts from 3 unrelated patients with I-cell disease (micolipidosis II) have a 3 to 4 fold increase in total sialic acid when compared to control fibroblasts. Sialic acid levels in a number of other lysosmal disorders, i.e., mucopolysaccharidosis I, II, III, VI, metachromatic leukodystrophy, G(M1) gangliosidosis, mannosidosis, Gaucher's and Sandhoff's disease are within the normal range suggesting that this is a finding specific for I-cells. Additionally, sonicates of cultured fibroblasts from controls were shown to have an acid sialidase capable of removing sialic acid from added fetuin at pH 4.2 in 0.05M acetate buffer. In contrast, I cell fibroblasts, within the limits of the assay, lack this enzyme activity.
|Original language||English (US)|
|Number of pages||8|
|Journal||Biochemical and Biophysical Research Communications|
|State||Published - 1976|
ASJC Scopus subject areas
- Molecular Biology