Glycogen storage disease GSD Ia

LABOKLIN Service ID: 8322

Glycogen storage disease type 1a (GSDIa) is caused by a dysfunction of the glycoregulation, which leads to mass storage of glycogen in organs. 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. 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.

Method	sequencing
Breed list	German Pinscher, Maltese
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab