Biochemical investigation of a case of glycogen-storage disease (von Gierke's disease)

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Abstract
Liver glycogen ([[alpha]]d + 196[degree] in water) isolated in a case of glycogen-storage disease has a normal structure (average chain length 14.5) and resembles rabbit-liver glycogen in respect of [alpha]- and [beta]-amylolysis and the action of isoamylase. The diseased liver has high phosphoglucomutase, glucose-6 phosphate dehydrogenase and phosphohexoisomerase activities. Glucose-6-phosphatase is present in the diseased liver in much reduced quantity, indicating that the disease corresponds to type 1 of Cori''s classification, i.e. von Gierke''s disease. The present case (A.K.) is a sibling of one (S.K.) investigated earlier and found to be suffering from type 3 of the disease, i.e. a deficiency of amylo-1, 6-glucosidase. It is notable that these siblings suffered from different forms of glycogen-storage disease. The kidney glycogen (A.K.) was examined and was found to have a normal structure.