Glycogen Storage Disease IIIa (GSD) - Curly Coated Retriever

The glycogen storage diseases (GSD) are a group of autosomal recessive disorders of glycogen metabolism that occur in all species and result in glycogen accumulation in tissue and disturbed glucose homeostasis. Clinical signs of disease vary, depending on severity of the enzyme defect, subcellular compartmentalization of the enzyme, and tissues in which the enzyme is normally expressed. The disease is characterized by a deficiency in glycogen debranching enzymes. Affected dogs show less symptoms in early life, but older animals suffer from lethargy and episodic hypoglycemia with collapse.

Inheritance: autosomal reccesive

Mutation: AGL gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.