Type IV Glycogen-storage Disease: Light-microscopic, Electron-microscopic, and Enzymatic Study

Open Access
Publisher Website
Google Scholar
Abstract
The case of a 14-monthold 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 α1,4-glucan: α1,4- glucan 6-glucosyl transferase in the liver and in the cultured skin fibroblasts.