Glycogenosis type II: the infantile- and late-onset acid maltase deficiency observed in one family.
The concurrence of the infantile and adult form of acid maltase deficiency in one family is presented. The muscle of both cases possesses residual activity. The glycogen amount in the infantile form is increased tremendously, while in the late-onset the amount of glycogen is normal.
D005260:Female; D005959:Glucosidases / Q000172:deficiency*; D006003:Glycogen / Q000032:analysis; D006008:Glycogen Storage Disease / Q000235:genetics*; D006009:Glycogen Storage Disease Type II / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000032:analysis / Q000201:enzymology; D000520:alpha-Glucosidases / Q000172:deficiency*
D006003:Glycogen; D005959:Glucosidases; D000520:alpha-Glucosidases