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Glycogen Storage Disease Type Ia (also known as GSD1a and von Gierke disease) is a genetic disorder caused by mutations in the Glucose-6-phosphatase (G6PC) gene, leading to issues with glucose metabolism.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Glycogen Storage Disease Type Ia (also known as GSD1a and von Gierke disease) is a genetic disorder caused by mutations in the Glucose-6-phosphatase (G6PC) gene, leading to issues with glucose metabolism. This is due to the inability of the body to release stored glucose from glycogen when needed, leading to inadequate fuel for the body’s energy needs. The variant of this test is an autosomal recessive mutation found in the German Pinscher.
Clinical features
Affected animals can have recurrent episodes of low blood sugar (hypoglycemia), which can display as weakness, tremors, confusion, and in severe cases, seizures or loss of consciousness. In addition accumulation of glycogen can occur in the cells of the liver and kidneys causing an enlarged liver (hepatomegaly) or kidneys (nephromegaly), elevated blood levels of cholesterol and triglycerides, urinary tract stones due to elevated uric acid levels, and potentially distention of the abdomen due to the enlarged liver and/or kidneys. It can also cause delays in growth and development due to the inability to properly metabolize energy. These clinical signs can severely affect the quality of life as they can lead to poor growth, fatigue, pain and urinary tract obstructions (if stones develop in the urinary tract) and muscle weakness.
Additional information
References
Pubmed ID: 34610166
Omia ID: 418