A case of von Gierke´s disease in a boy is presented. Clincal features were characterized by growth retardation, & abdominal distension due to marked hepatomegaly, accompanying hypoglycemia, epinephrine-resistant, blood sugar level, hypercholesterolemia, transient acetonuria, hyperuncemia, and anemia. Liver needle biopsy disclosed morphologic details of glycogen storage disease, and enzyme. assay of liver tissue indicated absent glucose-6-phosphatase..
A brief review of glucose-6-phosphatase deficiency hepatorenal glycogenosis is also given.
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