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Von Gierke disease - Overview

Alternative Names

Type I glycogen storage disease

Definition of Von Gierke disease:

Von Gierke disease is a condition in which the body cannot break down glycogen for energy. Gycogen is stored in the liver and muscles and is normally broken down into glucose when you do not eat.

Von Gierke disease is also called Type I glycogen storage disease (GSD I).

Causes, incidence, and risk factors:

Von Gierke disease occurs when the body lacks the protein (enzyme) that releases glucose from glycogen. This causes abnormal amounts of glycogen to build up in certain tissues. When glycogen is not broken down properly, it leads to low blood sugar.

Von Gierke disease is inherited, which means it is passed down through families. If both parents carry the defective gene related to this condition, each of their children has a 25% chance of developing the disease.

Reviewed last on: 4/15/2009
Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Behrman RE. Nelson Textbook of Pediatrics. 17th ed. Philadelphia, Pa: WB Saunders; 2004.

Smit GPA, Rake JP, Akman HO, DiMauro S. The glycogen storage diseases and related disorders. In: Fernandes J, Saudubray JM, Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. New York, NY:Springer;2006:chap 6.

Autosomal recessive

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