Abstract
Two siblings (50 and 64 y old)presented with weakness and pain of trunk and lower limb muscles. Serum, CPK, ECG, echocardiography and NCV were normal.The EMG demonstrated myopathic and pseudomyotonic discharges. Ultrastructural examination revealed lysosomal glycogen storage in sceletal muscle, fibroblasts and blood lymphocytes. By immunoprecipitation no deficiency of acid α-glucosidase was found in fibroblasts, leucocytes, lymphocytes and urine(substrates: p-N-phenyl-α-D-glucopyranoside, maltose, isomaltose, glycogen). Heat stability, pH-profile and Km(p-N-phenyl-substrate, 1.5 mM) of the enzyme were normal. Previous studies presented a defective post-translational modification of acid α-glucosidase in late onset forms of GSD II (FEBS Lett. 150, 69, 1982). We therefore studied the incorporation of radioactive leucine into the enzyme by immunoprecipitation,gel-electrophoresis and fluorography (J.Biol.Chem.255, 4937, 1980). Synthesis of precursor α-glucosidase such as processing of the enzyme to it's mature forms was found to be normal in the cultivated fibroblasts of the patients.
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Ullrich, K., Von Bassewitz, D., Shin, J. et al. 148 LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT DEFICIENCY OF ACID α-GLUCOSIDASE. Pediatr Res 20, 1058 (1986). https://doi.org/10.1203/00006450-198610000-00203
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DOI: https://doi.org/10.1203/00006450-198610000-00203