title: Liquid-chromatographic detection of aspartylglycosaminuria.
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: D000117:Acetylglucosamine / Q000031:analogs & derivatives* / Q000652:urine; D000293:Adolescent; D000328:Adult; D000581:Amidohydrolases / Q000172:deficiency*; D054880:Aspartylglucosaminuria; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D005260:Female; D005944:Glucosamine / Q000031:analogs & derivatives*; D006801:Humans; D007223:Infant; D008297:Male
chemical_list: C000009:N-acetylglucosaminylasparagine; D000581:Amidohydrolases; D005944:Glucosamine; D000117:Acetylglucosamine