Cultured fibroblasts from three unrelated patients with I-cell disease (mucolipidosis 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 lysosomal disorders, i.e., mucopolysaccharidosis I, II, III, VI, metachromatic leukodystrophy, GM1 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 - Jul 12 1976|
ASJC Scopus subject areas
- Molecular Biology
- Cell Biology