Urinary alpha-glucosidase analysis for the detection of the adult form of Pompe's disease.
Two alpha-glucosidases from human heart, liver, muscle, kidney and urine have been separated by means of Sephadex G-100 gel filtration. The first peak (Peak I) was neutral alpha-glucosidase and the second peak (Peak II) was lysosomal acid alpha-glucosidase. Peak II was absent in a patient with the adult form of Pompe's disease. KCl stimulated the activity of the Peak II enzyme but it strongly inhibited the activity of the Peak I enzyme measured at pH 4.0. Decreases in the urinary alpha-glucosidase activity measured at pH 4.0 with added KCl and the ratio of the activity at pH 4.0 with added KCl/the activity at pH 6.5 without KCl may aid in the detection of homozygotes or heterozygotes with the adult form of Pompe's disease.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002850:Chromatography, Gel; D004796:Clinical Enzyme Tests; D005260:Female; D005959:Glucosidases / Q000652:urine*; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000652:urine; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007223:Infant; D007668:Kidney / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D008297:Male; D009132:Muscles / Q000201:enzymology; D009206:Myocardium / Q000201:enzymology; D010375:Pedigree; D011189:Potassium Chloride / Q000494:pharmacology
D011189:Potassium Chloride; D005959:Glucosidases