In 1929 von Gierke1 reported his first case and described the glycogen disease bearing his name. Snapper and van Creveld2 had reported an extensive clinical study of a case the year before, and abnormal accumulations of glycogen had been recognized post mortem in livers previously. "Glycogen disease," as the term was used by van Creveld3 in his excellent review of the syndrome in 1939 and by others, has come to include, as pointed out by Mason and Andersen4 recently, a variety of clinical and pathologic pictures. In general there is a disorder of carbohydrate metabolism beginning at a very early age and characterized by storage of glycogen in abnormally large quantities in various organs, especially the liver, the kidneys and the heart. The causes may not necessarily be similar. Mason and Andersen4 made a tentative classification of the forms of the disease as described in
MANTER WB, BOWMAN RO. VON GIERKE'S DISEASE (GLYCOGEN DISEASE OF HEPATOMEGALIC TYPE). Am J Dis Child. 1943;66(4):404–412. doi:10.1001/archpedi.1943.02010220057006
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