Glycogen storage disease type I (GSD I) is caused by a dysfunction of the glycoregulation, which... more
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.
German Pinscher, Maltese
1-2 weeks after arrival of the sample in the lab