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Von Gierke disease

Definition:

Von Gierke disease is a group of inherited metabolic disorders which involve increased glycogen storage. Since glycogen is needed to fuel muscles, problems with its metabolism can affect the whole body.

Some problems include slow growth, enlarged liver, gout, kidney failure, and chronic low blood sugar. In the past, von Gierke disease was associated with stunted growth, delayed or absent puberty, and early death.

With the development of treatments, growth, puberty, and quality of life have markedly improved.

Alternative Names:
Type I glycogen storage disease

Causes, incidence, and risk factors:

All type I glycogen storage diseases are inherited in an autosomal recessive manner. Autosomal chromosomes are the non-sex chromosomes. If both parents are carriers of the mutated gene, each of their children has a 25% chance of inheriting the disease.

All the subtypes of this disease share a common feature -- lack of proteins responsible for transporting or breaking down the components of glycogen. As a result, abnormal amounts of glycogen accumulate in various tissues, causing a wide range of symptoms.



Review Date: 7/25/2003
Reviewed By: Douglas R. Stewart, M. D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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