TY - JOUR
T1 - Increased levels of sialic acid associated with a sialidase deficiency in I cell disease (mucolipidosis II) fibroblasts
AU - Thomas, G. H.
AU - Tiller, G. E.
AU - Reynolds, L. W.
AU - Miller, C. S.
AU - Bace, J. W.
PY - 1976
Y1 - 1976
N2 - 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.
AB - 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.
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U2 - 10.1016/0006-291X(76)90265-5
DO - 10.1016/0006-291X(76)90265-5
M3 - Article
C2 - 61029
SN - 0006-291X
VL - 71
SP - 188
EP - 195
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
IS - 1
ER -