Adult forms of glycogenosis type II. A defect in an early stage of acid alpha-glucosidase realization.
The activity of acid alpha-glucosidase in cultured fibroblasts from adult patients with the lysosomal storage disease glycogenosis type II is only 10% of normal. A normal activity per molecule is found for the mature as well as for the precursor form of acid alpha-glucosidase in adult mutant fibroblasts. Excessive lysosomal breakdown of mature enzyme purified from mutant fibroblasts and taken up by acceptor cells does not occur. However, the NH4Cl-stimulated secretion of a precursor form of acid alpha-glucosidase by adult mutant fibroblasts is markedly reduced. The results are indicative of a defect during the production of acid alpha-glucosidase.
D000367:Age Factors; D000643:Ammonium Chloride / Q000494:pharmacology; D002478:Cells, Cultured; D005347:Fibroblasts / Q000201:enzymology; D005959:Glucosidases / Q000378:metabolism*; D006008:Glycogen Storage Disease / Q000201:enzymology*; D006009:Glycogen Storage Disease Type II / Q000201:enzymology*; D006596:Hexosaminidases / Q000378:metabolism; D006801:Humans; D000520:alpha-Glucosidases / Q000378:metabolism*
D000643:Ammonium Chloride; D005959:Glucosidases; D006596:Hexosaminidases; D000520:alpha-Glucosidases