alpha-Glucosidase in Pompe's disease.
Isoelectric precipitation at pH 5.0 and the use of the inhibitors, turanose, maltose and citrate, enabled the diagnosis of Pompe's disease to be made in dextran-isolated leucocytes using 4-methylumbelliferyl-alpha-D-glucopyranoside as substrate. These techniques were unnecessary with lymphocytes as the deficiency of acid alpha-glucosidase could be shown directly.
D004796:Clinical Enzyme Tests; D005959:Glucosidases / Q000378:metabolism*; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007668:Kidney / Q000201:enzymology; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D000520:alpha-Glucosidases / Q000378:metabolism*
D005959:Glucosidases; D000520:alpha-Glucosidases