The diagnosis of Gaucher's disease in liver using 4-methylumbelliferyl-beta-D-glucopyranoside.
1. Cases of Gaucher's disease could not be distinguished from controls by the assay of beta-glucosidase activity in water homogenates of liver using 4-methylumbelliferyl-beta-D glucopyranoside. 2. Two peaks of beta-glucosidase activity were separated by Sephadex G-150 gel filtration in control and Gaucher livers. In the presence of the elution buffer pH profiles of peak I showed a deficiency at pH 3.5-4.5 in Gaucher's disease. Gaucher and control peak II had similar pH profiles with little or no activity at pH 3.0-4.0. 3. A clear distinction between homogenates of Gaucher and control liver was obtained by assay at pH 4.0 in the presence of elution buffer, or of sodium chloride, a component of the elution buffer.
D005776:Gaucher Disease / Q000175:diagnosis*; D005959:Glucosidases / Q000032:analysis; D005960:Glucosides; D005966:Glucuronidase / Q000032:analysis; D006801:Humans; D006863:Hydrogen-Ion Concentration; D006923:Hymecromone / Q000031:analogs & derivatives; D008099:Liver / Q000201:enzymology*; D014468:Umbelliferones
D005960:Glucosides; D014468:Umbelliferones; C014110:4-methylumbelliferyl glucoside; D006923:Hymecromone; D005959:Glucosidases; D005966:Glucuronidase