Background
Glycogen storage disease type IV (GSD IV) 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.
Test specific information
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Age
The genetic factor is continuously present, and will always be visible.
Throughput
Normally the result can be expected within 15 working days. This turn-around-time starts when both the sample and the fully filled-out and signed submission form have been received.
Location of disease or trait
This disease is present in the entire body, but causes main effects in the internal organs such as stomach, intestinal tract, liver and / or kidneys. In a number of cases, the disease affects one major internal organ.
Breed dependence
This DNA test is available for the following breeds: Norwegian Forest.
Sample type
For this DNA test we accept the following materials: Blood EDTA, Swab, Blood Heparin, Tissue. Please contact PharmaDNA if you wish to submit other material as listed.
Result
An animal can be free and has in that situation two healthy alleles. When used in breeding this animal will not become ill due to the disease. It cannot spread the disease in the population.An animal can be carrier and has in that situation one healthy and one disease allele. When used in breeding 50 percent of the offspring will receive the disease allele. Carriers will not become ill.An animal can be affected and has in that situation two disease alleles. When used in breeding all offspring will also receive the disease allele. Affected will become ill.
Inheritance
This genetic factor is inherited in an autosomal, recessive, mode. This means, that the individual can be free of the disease (homozygote normal), affected (homozygous affected) or carrier (heterozygous). Carriers may spread the mutation in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a mutation.
Severity of Disease
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