A microfluorometric assay of leukocyte alpha-1,4-glucosidase.
We describe an improved method for detecting deficiency of the acid hydrolase, alpha-1,4-glucosidase in leukocytes, the enzyme defect in glycogen storage disease Type II (Pompe disease). The procedure requires smaller volumes of blood and less time than previous methods. The assay involves the separation of leukocytes by Peter's method for beta-glucosidase and a modification of Salafsky and Nadler's fluorometric method for alpha-glucosidase.
D000328:Adult; D005959:Glucosidases / Q000097:blood* / Q000172:deficiency; D006008:Glycogen Storage Disease / Q000201:enzymology*; D006009:Glycogen Storage Disease Type II / Q000201:enzymology*; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007231:Infant, Newborn; D007700:Kinetics; D007962:Leukocytes / Q000201:enzymology*; D008832:Microchemistry; D013050:Spectrometry, Fluorescence / Q000379:methods
D005959:Glucosidases