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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