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Human disease From Wikipedia, the free encyclopedia
Glycogen storage disease type IV (GSD IV), or Andersen's Disease,[2][3] is a form of glycogen storage disease, which is caused by an inborn error of metabolism. It is the result of a mutation in the GBE1 gene, which causes a defect in the glycogen branching enzyme. Therefore, glycogen is not made properly and abnormal glycogen molecules accumulate in cells; most severely in cardiac and muscle cells. The severity of this disease varies on the amount of enzyme produced. GSD IV is autosomal recessive, which means each parent has a mutant copy of the gene, but show no symptoms of the disease. Having an autosomal recessive inheritance pattern, males and females are equally likely to be affected by Andersen's disease. Classic Andersen's disease typically becomes apparent during the first few months after the patient is born. Approximately 1 in 20,000 to 25,000 newborns have a glycogen storage disease.[4] Andersen's disease affects 1 in 800,000 individuals worldwide, with 3% of all GSDs being type IV.[5] The disease was described and studied first by Dorothy Hansine Andersen.[6][7]
| Glycogen storage disease type IV | |
|---|---|
| Other names | Andersen's triad, Andersen's disease[1] |
| |
| Glycogen | |
| Specialty | Endocrinology, medical genetics, hepatology  |
It is a result of the absence of the glycogen branching enzyme, which is critical in the production of glycogen. This leads to very long unbranched glucose chains being stored in glycogen. The long unbranched molecules have low solubility, leading to glycogen precipitation in the liver. These deposits subsequently build up in the body tissue, especially the heart and liver. The inability to break down glycogen in muscle cells causes muscle weakness. The probable result is cirrhosis and death within five years. In adults, the activity of the enzyme is higher and symptoms do not appear until later in life.[citation needed]
An assay of amylo-1,4 → 1,6 glucan transferases (which removes a block of 6 glucose residues from the 1,4 position and attaches it to the 1,6 position of the same chain)[citation needed]
Alternative names in medical literature for the disease include:[citation needed]
Mutations in GBE1 can also cause a milder disease in adults that is called adult polyglucosan body disease.[8]
The form in horses is known as glycogen branching enzyme deficiency. It has been reported in American Quarter Horses and related breeds.[citation needed]
The disease has been reported in the Norwegian Forest Cat, where it causes skeletal muscle, heart, and CNS degeneration in animals greater than five months old. It has not been associated with cirrhosis or liver failure.[9][10]
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