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Feline Glycogen Storage Disease IV (GSD IV)
| Acronym: | GSD IV, GSDIV |
| Gene: | GBE1 |
| Mutation: | g.34744479_34781895delinsN[334] |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Feline glycogen storage disease IV (GSD IV) is a deficiency of the glycogen branching enzyme (GBE). GBE is an enzyme of glycogen synthesis, a deficiency of which results in tissue deposition of an abnormal and poorly soluble poly-glucan resembling amylopectin. The glycogen storage diseases (GSDs), are a group of autosomal recessive disorders of glycogen synthesis and degradation that result in disturbed glucose homeostasis and glycogen accumulation in various tissues. The GSDs are categorized according to the deficient enzyme activity and have been numbered in the chronological order of the first documentation. Clinical signs of GSDs vary, depending on which enzyme is deficient, the severity of the enzyme defect, and the type and site of glycogen accumulation. Phenotypic variations between species have also been observed and may be due to metabolic adaptations leading to the relative dependence of species on dietary carbohydrates for glucose homeostasis.
In a family of Norwegian forest cats (NFC), kittens may have cardiopulmonary collapse and die at birth or develop progressive neuromuscular degeneration. There is no known treatment for this abnormality, but there is a genetic test available to detect carriers.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Fyfe, J.C., Kurzhals, R.L., Hawkins, M.G., Wang, P., Yuhki, N., Giger, U., Van Winkle, T.J., Haskins, M.E., Patterson, D.F., and Henthorn, P.S. (2007). A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats. Mol. Genet. Metab. 90, 383–392.
Shelton, L., and Helmrich, H.G. (2006). Heritable diseases and abnormalities in cats.