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Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder caused by a mutation in the GBE1 gene.
10 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Generell informasjon
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.
Kliniske egenskaper
GSD IV causes gradual organ failure, widespread muscle atrophy, and ultimately results in death.
Tilleggsinformasjon
Fenotypiske variasjoner har blitt observert og kan skyldes metabolske tilpasninger som fører til relativ avhengighet av individer på kostholds karbohydrater for glukose homeostase.
Referanser
Pubmed ID: 17257876
Omia ID: 420