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INHERITED MONOGENIC DISEASES

           

Glycogen type 1A or Von Gierke disease

Glucose is a simple sugar and the primary source of energy in our organism and glycogen is the storage form of glucose.

Glycogen storage diseases are a group of hereditary genetic disorders. Because of them, glycogen breaks away from the body incorrectly and consequently, increases abnormal amounts or types of glycogen in the body. Glycogen is stored principally in the liver or in the muscular tissue and for this reason, GSD generally affects the workings of the muscles or liver.

The principal types of GSD are classified by number and name, among which is Type I (GSD I) or Von Gierke disease. Itis the most common of the glycogen storage diseases. This genetic disease results from deficiency of the enzyme glucose-6-phosphate, and has an incidence in of approximately 90% of all GSD cases.

Type I glycogen storage disease (GSD I) occurs when the body lacks the protein enzyme glucose-6-phosphate that releases glucose from glycogen. Normally the enzymes help convert glucose into glycogen for storage (glycogen genesis); other enzymes convert the glycogen back to glucose when the body needs energy (glycogenolysis). In GSD, some of these enzymes are defective, insufficient, or non-existent and abnormal glycogen is accumulated in the liver or muscular tissues.

GSD-1A can be found in both males and females and it is inherited, which means it is passed down through families. If both parents carry the defective gene associated with this condition, each of their children has a 25% chance of developing the disease.

The principal causes of death from this disorder are hyperglycemic seizures and/or severe acidosis.

GENE OR REGION STUDIED


  • G6PC

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