Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts

G. H. Thomas, G. E. Tiller, L. W. Reynolds, C. S. Miller, J. W. Bace

Research output: Contribution to journalArticlepeer-review

Abstract

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 languageEnglish (US)
Pages (from-to)188-195
Number of pages8
JournalBiochemical and Biophysical Research Communications
Volume71
Issue number1
DOIs
StatePublished - Jul 12 1976

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

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