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.

• Authors: C P Maury
• Journal: Clinical chemistry (Clin Chem) Vol. 27 Issue 12 Pg. 2058-60 (Dec 1981) ISSN: 0009-9147 [Print] England
• PMID: 7307258 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• N-acetylglucosaminylasparagine
• Amidohydrolases
• Glucosamine
• Acetylglucosamine

Topics

• Acetylglucosamine (analogs & derivatives, urine)
• Adolescent
• Adult
• Amidohydrolases (deficiency)
• Amino Acid Metabolism, Inborn Errors (diagnosis, urine)
• Aspartylglucosaminuria
• Carbohydrate Metabolism, Inborn Errors (diagnosis, urine)
• Child
• Child, Preschool
• Chromatography, Gas (methods)
• Glucosamine (analogs & derivatives)
• Humans
• Middle Aged