NORD gratefully acknowledges Yuan-Tsong Chen, MD, PhD, Professor, Division of Medical Genetics, Department of Pediatrics, Duke Medicine; Distinguished Research Fellow, Academia Sinica Institute of Biomedical Sciences, Taiwan and Deeksha Bali, PhD, Professor, Division of Medical genetics, Department of Pediatrics, Duke Health; CO-Director, Biochemical Genetics Laboratories, Duke University Health System, for assistance in the preparation of this report.
Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy and to maintain steady blood glucose levels for the body. Type I glycogen storage disease is inherited as an autosomal recessive genetic disorder. Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys that can result in an enlarged liver and kidneys and growth retardation leading to short stature. GSDI is associated with abnormalities in the G6PC gene (GSDIA) or SLC37A4 gene (GSDIB) that result in enzyme deficiencies that cause excess amounts of glycogen accumulation in the body tissues and low levels of glucose in the blood. This enzyme deficiency also results in derangement of other important metabolites in the body thus causing imbalance or excessive accumulation of these metabolites, especially fats like lipids and triglycerides.
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