Heterogenous glycogen storage disease in one family.
Three brothers, aged 17, 14 and 4 ye presented. Deficiency of glucose-6-phosphatase was associated with deficiency of acid maltase in one and debranching enzyme in the other. Enzyme analyses could not be performed in the youngest sibling.
D000293:Adolescent; D002675:Child, Preschool; D005959:Glucosidases / Q000172:deficiency*; D005964:Glucosyltransferases / Q000172:deficiency*; D006008:Glycogen Storage Disease / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000201:enzymology / Q000235:genetics*; D006130:Growth Disorders / Q000201:enzymology / Q000235:genetics; D006529:Hepatomegaly / Q000201:enzymology / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000201:enzymology / Q000235:genetics; D008297:Male; D009765:Obesity / Q000201:enzymology / Q000235:genetics; D010024:Osteoporosis / Q000235:genetics
D005964:Glucosyltransferases; D005959:Glucosidases