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Glycogen Storage Disease IIIa (GSD IIIa)
| Acronym: | GSD IIIa |
| Gene: | AGL |
| Mutation: | c.4223delA |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
The glycogen storage diseases (GSD) are a group of autosomal recessive disorders of glycogen metabolism. Glycogen is the storage form of glucose in tissues. It is catabolized in the organism to glucose-1-phosphate if needed. GSD IIIa is a deficiency of glycogen debranching enzyme activity (GDE) which results in glycogen accumulation in the liver and muscles. The clinical signs appear to be mild in the first year of life, becoming more prominent with age and leading to lethargy, exercise intolerance, and episodic hypoglycemia with collapse.
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:
Gregory, B.L., Shelton, G.D., Bali, D.S., Chen, Y.-T., and Fyfe, J.C. (2007). Glycogen storage disease type IIIa in curly-coated retrievers. J. Vet. Intern. Med. 21, 40–46.