Deficient activity of glucocerebrosidase in urine from patients with type 1 Gaucher disease.
Glucocerebrosidase is present in considerable amounts in human urine. The enzyme is stable in concentrated urine for several days when stored at 0 degrees C. Like tissue glucocerebrosidase, the urinary enzyme is inhibited by conduritol B-epoxide and hydrolyses not only glucocerebroside but also the synthetic substrate 4-methyl-umbelliferyl-beta-D-glucoside. The enzyme is deficient in urine from patients with Gaucher disease (type 1). It is possible to discriminate completely between patients with type 1 Gaucher disease and control subjects by measuring the ratio glucocerebrosidase/beta-hexosaminidase in urine. The value of this ratio (mean +/- SE) with the synthetic substrates 4-methylumbelliferyl-beta-glucoside and p-nitrophenyl-beta-N-acetylglucosaminide, respectively, was 34.2 +/- 3.7 (n = 24) in the controls and 2.1 +/- 0.9 (n = 21) in the patients.
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005776:Gaucher Disease / Q000145:classification / Q000201:enzymology* / Q000652:urine; D005959:Glucosidases / Q000172:deficiency*; D005960:Glucosides; D005962:Glucosylceramidase / Q000037:antagonists & inhibitors / Q000172:deficiency* / Q000652:urine; D006596:Hexosaminidases / Q000652:urine; D006801:Humans; D006923:Hymecromone / Q000031:analogs & derivatives; D007294:Inositol / Q000031:analogs & derivatives / Q000494:pharmacology; D008297:Male; D008875:Middle Aged; D013379:Substrate Specificity; D001619:beta-N-Acetylhexosaminidases
D005960:Glucosides; C014110:4-methylumbelliferyl glucoside; D006923:Hymecromone; D007294:Inositol; D005959:Glucosidases; D006596:Hexosaminidases; D005962:Glucosylceramidase; D001619:beta-N-Acetylhexosaminidases; C011423:conduritol epoxide