Glycogenspeicherkrankheit GSDIa
Glycogen storage disease (GSD Ia)
General description
Glycogen storage disease type I (GSD I) is caused by a dysfunction of the glycoregulation, which leads to accumulation of Glycogen in liver, muscle and nerve cells and their gradual dysfunction. Affected dogs show symptoms like depression, bad nutritional state and slow growth.
Breeds
German Pinscher, Maltese
Order details
| Test number | 8322 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Inheritance | autosomal recessive |
Detailed description
Glycogen storage disease type 1 (GSD 1) is caused by a dysfunction of the glycoregulation, which leads to mass storage of glycogen in organs. The ability to bind and cleave gflucose 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. The function of GBE is altered by a mutation, that leads to a change in the structure of glycogen and inhibits its degradation. Therefore, accumulation of glycogen in liver, muscle and nerve cells results in gradual dysfunction of these organs. Affected puppies exhibit symptoms like depression, bad nutritional state and slow growth early on.
