Oligosaccharide excretion in adult Gaucher disease.
Gaucher disease is a lysosomal storage disease characterized by storage of glucocerebroside due to lysosomal glucocerebrosidase deficiency. Increased urinary excretion of sialyloligosaccharides and mannosylglycoasparagines has been described for two patients with the infantile form of the disease, probably as a consequence of obstruction of lysosomal functioning due to the glycolipid accumulation in lysosomes. By thin-layer chromatography, we found increased urinary oligosaccharide excretion in a series of adult non-neuronopathic patients. Oligosaccharide patterns were comparable between patients and also with the pattern observed in infantile Gaucher disease. Composition was analysed by methanolysis and gas chromatography. Mannose and N-acetylglucosamine are the main carbohydrates in all oligosaccharide bands. A statistically significant correlation was found between oligosaccharide excretion and the severity of the disease expressed as severity score index. Patients 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.
de Jong
J G
JG
Laboratory for Neurology and Pediatrics, University Hospital Nijmegen, The Netherlands.
Aerts
J M
JM
van Weely
S
S
Hollak
C E
CE
van Pelt
J
J
van Woerkom
L M
LM
Liebrand-van Sambeek
M L
ML
Wevers
R A
RA
D000328:Adult; D002241:Carbohydrates / Q000032:analysis; D002855:Chromatography, Thin Layer; D005776:Gaucher Disease / Q000188:drug therapy / Q000378:metabolism* / Q000503:physiopathology; D005962:Glucosylceramidase / Q000627:therapeutic use; D006801:Humans; D009844:Oligosaccharides / Q000378:metabolism*; D012720:Severity of Illness Index
D002241:Carbohydrates; D009844:Oligosaccharides; D005962:Glucosylceramidase