Glycogen storage disease type IV " "(GSD IV) ""in Norwegian Forest Cat

Glycogen storage disease type IV

Disease

Norwegische Waldkatze

Glycogen storage disease type IV (GSD IV) of the Norwegian forest cat is an inherited abnormality of glucose metabolism. Normally, excess glucose is stored in many tissues as glycogen. If energy is needed, glucose molecules are removed from glycogen. The ability to add and remove glucose molecules from glycogen efficiently is dependent on its highly branched structure. The glycogen branching enzyme (GBE) is an enzyme of glycogen synthesis necessary to produce the branching structure.
Deficiency of GBE activity leads to abnormal glycogen accumulation in myocytes, hepatocytes, and neurones, causing variably progressive, benign to lethal organ dysfunctions.
Most affected kittens die at or soon after bird, presumably due to hypoglycemia. Survivors of the perinatal period appear clinically normal until onset of progressive neuromuscular degeneration at 5 month of age.

Breed

Norwegian forest cat

Trait of inheritance

autosomal-recessive

Test duration

1-2 weeks after arrival of the sample in the lab

Material

The DNA test is performed out of EDTA blood or buccal swabs. Required swabs can be ordered free of charge. (Buccal swab order-form). If a swab is sent in, possibly the genetic material is not sufficient to run the test. In this case it would be best to send in an EDTA blood sample.

Testing procedure

Please send in your sample together with the lab order genetic. Results will be transmitted optionally via post, fax or email. After completion of the test you will receive a separate invoice. Payment can be made via credit card or bank transfer.
Breeding club discounts apply if a copy of the membership card is sent together with the respective samples. Due to administrative reasons the invoiced price can not be altered subsequently.

Questiones?

Please contact our molecular biology team for further questions.

LABOKLIN GmbH und Co.KG
Steubenstraße 4
D-97688 Bad Kissingen

Telefon: +49 (0)971 72020
Fax: +49 (0)971 68546
E-Mail: info@labogen.com

Links

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