QUANTITATIVE-DETERMINATION OF 4-N-2-ACETAMIDO-2-DEOXY-BETA-D-GLUCOPYRANOSYL-L-ASPARAGINE IN THE URINE OF PATIENTS WITH ASPARTYLGLYCOSAMINURIA BY GAS-LIQUID-CHROMATOGRAPHY

  • 1 January 1979
    • journal article
    • research article
    • Vol. 93  (5) , 718-723
Abstract
A specific and sensitive method for the quantitative determination of GlcNAc-Asn [4-N-2-acetamido-2-deoxy-.beta.-D-glucopyranosyl-L-asparagine] in the urine of patients with inherited deficiency of the lysosomal hydrolase N-aspartyl-.beta.-glucosaminidase [EC 3.5.1.26] is reported. The method is based on GLC assay of GlcNAc-Asn as its methylated derivative and requires 100 .mu.l of urine. The mean urinary excretion of GlcNAc-Asn in 14 AGU [aspartylglycosaminuria] patients was 0.99 mmol/24 h (range 0.15-1.88). Young patients had similar urinary levels of GlcNAc-Asn to those of the older ones when the results were calculated on the basis of creatinine excretion. Mass fragmentographic analysis revealed the presence of minimal amounts of GlcNAc-Asn in normal urine also. In 4 of the 8 normal subjects studied, a rough quantitative estimation was feasible; the urinary output of GlcNAc-Asn in these subjects ranged from approximately 0.001-0.01 mmol/24 h.

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