GSD IIIa / glycogen storage disease IIIa (AGL-related) - Curly Coated Retriever

What does this test examine?

This genetic test analyses the AGL variant c.4223delA for GSD IIIa / glycogen storage disease type IIIa in the Curly Coated Retriever. The condition is also referred to as GSD IIIa / glycogen storage disease type IIIa, glycogen storage disease, GSD and a AGL-related metabolic disease.

What does this disease mean?

GSD IIIa is a glycogen storage disease in which liver and muscle can be involved. Affected dogs can develop exercise intolerance, muscle weakness, episodic lethargy or hypoglycaemia, increased liver enzymes, liver enlargement and progressive muscle problems.

AGL encodes the glycogen debranching enzyme. The tested deletion causes a frameshift, impairing glycogen breakdown and making liver and muscle tissue especially vulnerable to energy shortage and storage effects.

Inheritance and result

The condition follows an autosomal recessive inheritance pattern. Carriers have one copy and are usually not affected themselves; dogs with two copies develop the tested form of the disease.

• Clear: the tested variant was not detected.
• Carrier: one copy was detected; this is especially relevant for breeding plans.
• Affected: two copies were detected; this genotype causes the tested disease.

Practical value of this test

The test makes a hidden recessive risk visible before breeding decisions are made. This is practically important because carriers can look healthy, while two carriers can produce affected puppies.

• Supports breeding selection and safe mating plans.
• Helps identify hidden carriers before they are unknowingly used for breeding.
• Reduces the risk of puppies with a severe inherited metabolic disease.
• Provides clear genetic information when compatible signs or family history are relevant.