title: Type IV glycogen-storage disease. Light-microscopic, electron-microscopic, and enzymatic study.
abstract: The case of a 14-month-old Latin American girl with the diagnosis of Type IV glycogen-storage disease is reported. The diagnosis was reached on the basis of the typical clinical manifestations, the light- and electron-microscopic findings, and the demonstration of absence of the branching enzyme alpha-1,4-glucan:alpha-1,4-glucan 6-glucosyl transferase in the liver and in the cultured skin fibroblasts.
mesh_terms: D015061:1,4-alpha-Glucan Branching Enzyme / Q000172:deficiency*; D005260:Female; D005964:Glucosyltransferases / Q000172:deficiency*; D006008:Glycogen Storage Disease; D006011:Glycogen Storage Disease Type IV / Q000201:enzymology / Q000473:pathology; D006801:Humans; D007223:Infant; D008099:Liver / Q000201:enzymology / Q000648:ultrastructure; D008112:Liver Glycogen / Q000378:metabolism; D012867:Skin / Q000201:enzymology
chemical_list: D008112:Liver Glycogen; D005964:Glucosyltransferases; D015061:1,4-alpha-Glucan Branching Enzyme