Glycogen Storage Disease III Overview
Glycogen Storage Disease III
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Category: Metabolic - Associated with the enzymes and metabolic processes of cells
Gene: Amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL) on Chromosome 6
Variant Detected: Nucleotide Deletion c.4223delA p.frameshift
Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.
Mode of Inheritance: Autosomal Recessive
Test Overview: 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 catabolised 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 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.
Recommended Screening: 1. DNA test all breeding animals prior to entering into a breeding program (e.g. at 1 year old).
Research Citation(s): Gregory, BL. et al. Glycogen Storage Disease Type IIIa in Curly-Coated Retrievers (2007) J Vet Intern Med, 21(1);40-46.
Associated Breed(s): Curly Coated Retriever, Mixed Breed,