Globoid Cell Leukodystrophy (Irish Setter)

Body function:

Immune & Autoimmune

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Globoid cell leukodystrophy, also known as Krabbe’s disease, occurs in Irish Setters due to a mutation in the GALC gene. It is an inherited disorder that causes a deficiency of the enzyme galactocerebrosidase, making these dogs unable to produce myelin, a substance that protects neurons. Neurons fire improperly, are susceptible to damage, and are destroyed. Globoid cell leukodystrophy is a fatal disease.

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List of affected breeds:

Genetic research has linked this gene and condition in the following breeds:

Irish Setter

A brown dog with floppy ears is looking up at the camera with its mouth open and tongue out. The dog is standing in a field of tall grass.

What does this mean for a dog with this trait?

There is no cure for globoid cell leukodystrophy. Dogs with the disorder should be closely monitored by a veterinarian. Care is supportive and depends on the specific symptoms a dog is experiencing.

Symptoms

Dogs with globoid cell leukodystrophy begin to show symptoms between 1 and 5 months of age. They experience uncoordinated movements, tremors, ataxia, and loss of muscle reflex. Over time, dogs with globoid cell leukodystrophy suffer from blindness and paralysis, ultimately leading to death before 1 year of age.

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