Mar 02 2008
Millenia and GSD IV
From Antagene website:
The glycogen storage disease type IV (GSD IV) is an inherited disorder of glucose metabolism . In Norwegian Forest Cat, GSD IV is due to an inherited deficiency of an enzyme of glycogen synthesis called GBE (Glycogen Branching Enzyme). In affected cats, an abnormal form of glycogen (a polymer of glucose) is stored in most tissues.
Most affected kittens die at birth or soon after birth because they are not able to produce enough glusose during the birth process and the first hours of life. Rarely, affected kittens could live normally until 5 months of age, but the disease leads quickly to neuromuscular degeneration, to severe muscular atrophies, to cardiac failures and to death before 15 months of age.
The GSD IV is inherited as an autosomal recessive trait in the Norwegian Forest Cat.
Pr John Fyfe from the University of Michigan (USA) identified the GBE1 gene and the mutation causing GSD IV in Norwegian Forest Cat (Fyfe et al. 2007). In collaboration with Pr John Fyfe, ANTAGENE developped a DNA test and validated it on carriers and affected Norwegian Forest Cats.
The GSD4 test detects directly the causative mutation in the GBE1 gene.
Statistics (frequency of carriers):
USA : 15%
Europe : 10,8% (ANTAGENE, september 2007)
We have just tested our cats and, unfortunately, Millenia was found heterozygous to the mutation: this means that, even if she is healthly and will never develop the disease, she can carries the mutation to her offspring. For this reason we decided to neutralize her in a short time. It would have been fun to see her kittens but it doesn’t matter: she is healthly and happy, and these are the most important things for us.
