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Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder caused by a mutation in the GBE1 gene.
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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 IV (GSD IV) is an autosomal recessive disorder caused by a mutation in the GBE1 gene. Glycogen storage diseases (GSDs) affect the synthesis and breakdown of glycogen, resulting in disrupted glucose homeostasis and the accumulation of glycogen in various tissues.
GSD IV occurs due to a defect in the glycogen branching enzyme (GBE), which impairs normal glycogen storage within cells. This leads to abnormal glycogen accumulation in the liver, neurons, and muscles, causing progressive organ damage. Affected kittens may die at birth or shortly thereafter. In some cases kittens appear healthy until around 5 months of age. Then they develop a persistent fever followed by muscle tremors, progressing to widespread muscle wasting and eventually death. This mutation is observed in the Norwegian Forest cats.
Clinical features
GSD IV causes gradual organ failure, widespread muscle atrophy, and ultimately results in death.
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