[Mucolipidosis II (I cell disease): a sialidosis?].
I cell disease is characterised by loss of lysosomal enzymes from fibroblasts with accumulation of the same enzymes in the surrounding fluid. The urine oligosaccharides are composed by sialyl-oligosaccharides with equal numbers of alpha (2--6) and alpha (2--3) neuraminic acid -beta-galactoside bonds. A defect in the alpha (2--6) and alpha (2--3) neuraminidase activity in leucocytes and fibroblasts has been demonstrated. This deficit is the primary abnormality in I cell disease and it can be compared to the partial enzyme deficiencies described particularly in Mucolipidosis type I.
D001826:Body Fluids / Q000032:analysis; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D009081:Mucolipidoses / Q000145:classification / Q000201:enzymology*; D009439:Neuraminidase / Q000172:deficiency*; D009844:Oligosaccharides / Q000378:metabolism*
D009844:Oligosaccharides; D009439:Neuraminidase
La mucolipidose II ("I cell disease"): une sialidose?