Glycogen storage disease type IIIa (GSD IIIa)
Glycogen storage disease type IIIa is caused by a mutation in the AGL gene which leads to a dysfunction of the glucoregulation: the ability to bind and cleave Glucose to and from glycogen depends on the branched structure of glycogen. Two enzymes regulate the shape of this structure: Glycogen branching enzyme (GBE) builds it up; Glycogen de-branching enzyme (GDE) breaks it down.
Accumulation of Glycogen in liver and muscle cells occurs when the activity of GDE is down-regulated. This leads to gradual dysfunction of these organs. Affected puppies don't exhibit symptoms during the first years. The disease gets obvious when lethargy and episodically hypoglycaemia including collapses occur after some years.
Trait of inheritance
1-2 weeks after arrival of the sample in the lab
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.
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.