Glycogen storage disease (GSD IIIa)
Glycogen storage disease (GSD IIIa)
General description
Glycogen storage disease type IIIa (GSD IIIa) is caused by a dysfunction of the glycoregulation, which leads to accumulation of Glycogen in liver and muscle cells and their gradual dysfunction. Affected dogs show symptoms like lethargy and might collapse from hypoglyccamia after some years
Breeds
Curly Coated Retriever
Order details
| Test number | 8156 |
| Abbreviation | GSD IIIa |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | systemic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | AGL |
| Mutation | DEL |
| Literature | OMIA:000418-9615 |
Detailed description
Glycogen storage disease type IIIa is a malfunction of glucose metabolism due to a variant in the AGL gene, which has been described in Curly Coated Retrievers.
The ability to efficiently bind glucose to glycogen and break it down again depends on the highly branched structure of glycogen. The glycogen branching enzyme (GBE) is necessary for the formation of this branched structure, while the glycogen debranching enzyme (GDE) is necessary for its breakdown. A failure of GDE activity leads to an abnormal accumulation of glycogen in liver and muscle cells, resulting in progressive organ dysfunction.Affected dogs often show few clinical symptoms in the first years of life, but with advancing age, the disease manifests itself more and more frequently through lethargy and episodic hypoglycaemia with collapse.
