Glycogen Storage Disease type IV (GSD IV)

English Czech German Danish French Icelandic Italian Dutch Norwegian Portuguese Swedish

GSD IV (Glycogen Storage Disease type IV) is an inherited disorder affecting the glucose metabolism. This inherited deficiency is known in humans, horses and cats, but among cats it has only been seen in the Norwegian Forest Cats.

Clinical Signs

Most affected kittens are stillborn or die soon after birth, presumably due to hypoglycaemia (not being able to produce enough glucose "energy") during the birth process and the first hours of life. In very rare cases affected kittens may develop "normally" until 4-5 months of age, they might get some intermittent fever (fever that rises and falls) with tremors and ataxia (lack of control of the movements), then the growth stops and the disease leads progressively to neuromuscular degeneration, to severe muscular weakness, contractions, atrophy and inability to use its limbs (especially the hind legs), to eat, clean itself, to cardiac failures or coma and finally to death before the age of 15 months. But the kitten has presumably already been put to sleep before that age in view of the terrible sufferance.

Mutation and Inheritance

The gene responsible for the disease has been identified by Dr. John Fyfe in the USA, who also developed a gene test for the mutation in Norwegian Forest Cats in 1996. In Europe this test has been available since 2007. The disease prevalence reported is around 15% in the USA, while statistics in Europe after testing around 2300 cats during a year show 12% carriers.

GSD IV is inherited as a simple autosomal recessive trait, which means that both parents must be carriers of the mutated gene in order to produce affected offspring.

How to test
Breeding recommendations
Contacts

Health programme

PawPeds has in cooperation with two breed clubs and other interested parties worked out a GSD IV health programme starting on 22 October 2008. All breed clubs and other interested cat clubs are very welcome to join the programme!

Clubs presently participating in this health programme: