Globoid cell leukodystrophy / Krabbe disease (GALC-related) - Irish Setter

What does this test examine?

This genetic test analyses the GALC variant c.790_791insN[78] for globoid cell leukodystrophy / Krabbe disease in the Irish Setter. The condition is also known as GCL, GLD, galactosylceramide lipidosis, galactocerebrosidase deficiency and GALC deficiency. The test determines whether the dog is clear, a carrier or genetically affected for the tested variant.

What does this condition mean?

GALC encodes galactosylceramidase, an enzyme needed for normal breakdown of substances in nervous tissue and myelin. When the enzyme is deficient, damaging substances accumulate and the brain, spinal cord and peripheral nerves are progressively damaged. Affected dogs can develop muscle weakness, tremors, ataxia, abnormal gait, muscle wasting, visual problems, seizures and eventually paralysis.

Practical value of this test

• reveals hidden carriers before they are used in breeding combinations
• helps avoid carrier-to-carrier matings and prevents puppies with this severe neurological disease
• gives breeders concrete information to manage valuable lines responsibly
• supports clear communication with puppy buyers and breed organisations
• can help confirm or exclude a focused inherited cause in young dogs with neurological signs

Inheritance and result

The condition is inherited as autosomal recessive. N/N means that the tested variant was not detected. N/insN[78] means that the dog is a carrier and can pass the variant on. insN[78]/insN[78] causes the tested form of globoid cell leukodystrophy / Krabbe disease.