[Excretion of sialoglycopeptides in mucolipidosis I].
Mucolipidosis I involves a tremendous increase of the urinary excretion of sialoglycopeptides and sialyloligosaccharides. This enhancement is due to the excretion of O- and N-glycosidic peptides and oligosaccharides, which normal urine is devoid of as shown by the chemical composition and electrophoresis or thin-layer analysis. This finding is in agreement with the recent finding of an alpha-neuraminidase deficiency for this disease.
D002648:Child; D006027:Glycosides / Q000378:metabolism / Q000652:urine; D006801:Humans; D009081:Mucolipidoses / Q000652:urine*; D009439:Neuraminidase / Q000172:deficiency; D009844:Oligosaccharides / Q000652:urine; D012795:Sialoglycoproteins / Q000652:urine*
D006027:Glycosides; D009844:Oligosaccharides; D012795:Sialoglycoproteins; D009439:Neuraminidase
Excrétion de sialoglycopeptides, associée à la mucolipidose de type I.