Disease overview

Glycogen storage disease type IV is an autosomal recessive disease that inhibits normal glucose metabolism. It is caused by a deficiency in the glycogen branching enzyme (GBE1). In healthy animals, glucose is stored as glycogen. In animals with this disease, abnormal glycogen builds up in myocytes, hepatocytes, and neurons, leading to a myriad of organ dysfunctions with variable severity.

Gene name

GBE1

Inheritance

Autosomal recessive

Signs and symptoms

This disease is fatal. While most kittens will die at birth, it is possible for signs to be delayed until several months later. In these cases, kittens will present with fever, muscle tremors, muscle loss, and death.

How is it diagnosed

The disease is diagnosed through a genetic test.

Breeds at higher risk

Citations

https://pubmed.ncbi.nlm.nih.gov/17257876/

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.