Liquid-chromatographic detection of aspartylglycosaminuria

Clin Chem. 1986 Mar;32(3):501-2.

Abstract

We describe a specific, simple liquid-chromatographic method for detecting the lysosomal storage disease aspartylglycosaminuria. The method is based on identification and quantification of the major storage compound 2-acetamido-1-L-beta-aspartamido-1, 2-dideoxy-beta-D-glucose in the urine of affected individuals. Sample preparation and chromatographic analysis requires 30 min. Within-day variation of the method was less than 4.4%, between-day variation less than 11.7% (n = 10 each).

MeSH terms

  • Acetylglucosamine / analogs & derivatives*
  • Acetylglucosamine / urine
  • Adolescent
  • Adult
  • Amidohydrolases / deficiency*
  • Aspartylglucosaminuria*
  • Child
  • Child, Preschool
  • Chromatography, High Pressure Liquid
  • Female
  • Glucosamine / analogs & derivatives*
  • Humans
  • Infant
  • Male

Substances

  • N-acetylglucosaminylasparagine
  • Amidohydrolases
  • Glucosamine
  • Acetylglucosamine