Abstract
Heterozygote-diagnosis of GSD II and GSD III by quantitation of a urinary glycogen fragment.
A glucose-containing tetrasaccharide characterized as a-D-Glc-(1-6)-a-D-Glc-(1-4)-a-D-Glc-(1-4)-D-Glc was first found in normal human urine and has a normal excretion rate of 0,1-2,5 mg per 24 hrs. The structure of this oligosaccharide strongly indicates a glycogen origin. The excretion of the glucose tetrasaccharide have been studied in several diseases in which an abnormal glycogen metabolism is known. Greatly increased amounts were found in the urine of patients with glycogen storage disease types II and III. A moderate increase was observed in glycogen storage disease type VI while normal excretion was found in cases with glycogen storage disease type I.
New results indicate that the quantitative determination of this compound is of value in the identification of GSD type II and III heterozygotes which in hitherto studied families show a clearly increased urinary excretion of the tetrasaccharide.
The tetrasaccharide is reduced to its alditol derivative and methylated. The permethylated derivative is quantitated by gas-liquid chromatography and identified by its retention time on GLC and its mass spectrum.
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Lundblad, A., Sjöblad, S. & Lindquist, B. Heterozygote-diagnosis of GSD II and GSD III by quantitation of a urinary glycogen fragment: 1. Pediatr Res 14, 166 (1980). https://doi.org/10.1203/00006450-198002000-00028
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DOI: https://doi.org/10.1203/00006450-198002000-00028
