Infantile Hypoglycaemia due to Inherited Deficiency of Glycogen Synthetase in Liver

Abstract

In 1909 Garrod introduced the concept of the metabolic block. Over 70 diseases are now thought to be due to inborn errors of metabolism, and of these some 20 have been shown to be due to a single enzyme defect. We now report the clinical con- dition resulting from the congenital absence of the liver enzyme glycogen synthetase. Our report is based on the study of identical twins who become hypoglycaemic after an overnight fast.