Detection of aspartylglycosaminuria by gas--liquid chromatography.
Open Access
- 1 December 1981
- journal article
- research article
- Published by Oxford University Press (OUP) in Clinical Chemistry
- Vol. 27 (12) , 2058-2060
- https://doi.org/10.1093/clinchem/27.12.2058
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.This publication has 5 references indexed in Scilit:
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