Structure of the three major sialyl-oligosaccharides excreted in the urine of five patients with three distinct inborn diseases: "I cell disease" and two new types of mucolipidosis

Biochim Biophys Acta. 1976 Sep 24;444(2):349-58. doi: 10.1016/0304-4165(76)90378-0.

Abstract

The urine of five patients with three distinct diseases ("I Cell disease" and two new types of mucolipidosis) contains sialic acid-rich oligosaccharides in a high amount: 50- to 500-fold the normal. The structure of the major components are as follows: alphaAcNeu(2 leads to 6)betaGal(1 leads to 4)betaGlcNac(1 leads to 2)alphaMan(1 leads to 3)betaMan(1 leads to 4)GlcNac,[alphaAcNeu(2 leads to 6)]betaGal(1 leads to 4)betaGlcNAc(1 leads to 2)alphaMan(1 leads to 3)[betaGal(1 leads to 4)betaGlcNac(1 leads to 2)alphaMan(1 leads to 6)]betaMan(1 leads to 4)GlcNAc and alphaAcNeu(2 leads to 6)betaGal(1 leads to 4)betaGlcNAc(1 leads to 2)alphaMan(1 leads to 3)[alphaAcNeu(2 leads to 6)betaGal(1 leads to 4)betaGlcNAc(1 leads to 2)alphaMan(1 leads to 6)]betaMan(1 leads to 4)GlcNAc. These results suggest that a deficit in alpha-neuraminidase is associated to these three different disorders and that an endo-beta-D-N-acetylglucosaminidase is able to release sialyoligosaccharides by splitting the sialylglycans of glycoproteins.

MeSH terms

  • Adult
  • Child, Preschool
  • Female
  • Hexoses / analysis
  • Humans
  • Infant
  • Male
  • Neuraminidase / deficiency
  • Oligosaccharides / analysis
  • Oligosaccharides / urine*
  • Sialic Acids / analysis
  • Sialic Acids / urine*

Substances

  • Hexoses
  • Oligosaccharides
  • Sialic Acids
  • Neuraminidase