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 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.
