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K751

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

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