INHERITED abnormalities of glycogen metabolism were recognized very early, because pathologists could identify gross accumulations of glycogen in tissues during postmortem examinations. The specific patterns of tissue involvement permitted recognition of a number of clinical types of glycogen storage disease long before the biochemical pathways had been identified and the specific causes of the inborn errors of metabolism understood. The study of tissue-biopsy specimens from patients with glycogen storage diseases taught us the value of studying enzymatic reactions to identify human genetic disease. In 1952 Cori and Cori identified a deficiency of glucose-6-phosphatase activity in liver tissue obtained by biopsy.
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