Glycogen storage disease type IIIa (GSD IIIa) is caused by a dysfunction of the glycoregulation,... altro
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.
Curly Coated Retriever
1 - 2 weeks after arrival of the sample in the lab