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Glycogen Storage Disease Type I

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Yuan-Tsong Chen, MD, PhD, Professor, Division of Medical Genetics, Department of Pediatrics, Duke Medicine; Director, Academia Sinica Institute of Biomedical Sciences, Taiwan and Deeksha Bali, PhD, Associate Professor & Director GSD Section, Biochemical Genetics Laboratories, Duke Medicine, for assistance in the preparation of this report.

Synonyms of Glycogen Storage Disease Type I

  • glucose-6-phosphatase deficiency
  • glycogenosis type I
  • GSDI
  • Von Gierke disease

Disorder Subdivisions

  • glycogen storage disease type IA
  • glycogen storage disease type IB

General Discussion

Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy 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.

Organizations related to Glycogen Storage Disease Type I

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