Glycogen storage disease GSD IIIa

LABOKLIN Service ID: 8156

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.

Method	sequencing
Breed list	Curly Coated Retriever
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab