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The glycogen storage diseases (GSDs), are a group of autosomal recessive disorders of glycogen synthesis and degradation that result in disturbed glucose homeostasis and glycogen accumulation in various tissues.
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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
The glycogen storage diseases (GSDs), are a group of autosomal recessive disorders of glycogen synthesis and degradation that result in disturbed glucose homeostasis and glycogen accumulation in various tissues. Deficiency of glycogen branching enzyme (GBE) activity causes glycogen storage disease type IV (GSD IV), an autosomal recessive error of metabolism.
Clinical features
Abnormal glycogen accumulates in myocytes, hepatocytes, and neurons, causing variably progressive, benign to lethal organ dysfunctions.
Additional information
Phenotypic variations have been observed and may be due to metabolic adaptations leading to the relative dependence of individuals on dietary carbohydrate for glucose homeostasis.
References
Pubmed ID: 17257876
Omia ID: 420
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