OLIGOSACCHARIDE EXCRETION IN ADULT GAUCHER-DISEASE

Gaucher disease is a lysosomal storage disease characterized by storag e of glucocerebroside due to lysosomal glucocerebrosidase deficiency. Increased urinary excretion of sialyloligosaccharides and mannosylglyc oasparagines has been described for two patients with the infantile fo rm of the disease, probably as a consequence of obstruction of lysosom al functioning due to the glycolipid accumulation in lysosomes. By thi n-layer chromatography, we found increased urinary oligosaccharide exc retion in a series of adult non-neuronopathic patients. Oligosaccharid e patterns were comparable between patients and also with the pattern observed in infantile Gaucher disease. Composition was analysed by met hanolysis and gas chromatography. Mannose and N-acetylglucosamine are the main carbohydrates in all oligosaccharide bands. A statistically s ignificant correlation was found between oligosaccharide excretion and the severity of the disease expressed as severity score index. Patien ts treated with enzyme replacement therapy showed a reduction up to 65 % of the original oligosaccharide excretion after 1 year of treatment, comparable with the reduction in spleen volume.