ABSTRACT
The glycogen storage diseases represent an enlarging group of diseases characterized by the deposition of glycogen in tissue cells. They are a heterogeneous group with different etiologies and different clinical manifestations. The classic form of glycogen storage disease was first described by von Gierke in 1929 [1]. The glycogen from this original patient was isolated by Schoenheimer [2] and was found not to differ from normal glycogen in optical rotation or in its composition of glucose residues. The resistance of this material to glycogenolysis by the patient’s liver in vitro and its prompt degradation by normal liver led Schoenheimer to the conclusion that an enzyme essential to glycogenolysis was missing. This appears to have been the first demonstration of the concept proposed by Garrod [3] that inborn errors of metabolism result from genetically determined deficiencies of single enzymes. The demonstration by Cori and Cori [4] of the virtual absence of the activity of glucose-6-phosphatase in livers of patients with classic von Gierke disease established the deficiency of a single enzymatic step in carbohydrate metabolism as the basis of this disease.
