title: Detection of aspartylglycosaminuria by gas--liquid chromatography.
abstract: I describe a rapid gas-chromatographic method for specific detection of the lysosomal storage disease aspartylglycosaminuria, based on the identification of the major storage compound, 2-acetamido-1-N-(4'-L-aspartyl)-2-deoxy-beta-D-glucopyranosylamine (GlcNAc-Asn) in the urine of affected individuals. A 50-microL sample of urine is methylated without prior purification; the methylation products are then analyzed by gas--liquid chromatography. Under these conditions a diagnostic GlcNAc-Asn peak can be seen in the urine of patients with aspartylglycosaminuria, but not in the urine of control subjects or patients with related storage diseases.
mesh_terms: D000117:Acetylglucosamine / Q000031:analogs & derivatives* / Q000652:urine; D000293:Adolescent; D000328:Adult; D000581:Amidohydrolases / Q000172:deficiency*; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000652:urine; D054880:Aspartylglucosaminuria; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000652:urine; D002648:Child; D002675:Child, Preschool; D002849:Chromatography, Gas / Q000379:methods; D005944:Glucosamine / Q000031:analogs & derivatives*; D006801:Humans; D008875:Middle Aged
chemical_list: C000009:N-acetylglucosaminylasparagine; D000581:Amidohydrolases; D005944:Glucosamine; D000117:Acetylglucosamine