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Globoid Cell Leukodystrophy/Krabbe’s Disease

Globoid Cell Leukodystrophy/Krabbe’s Disease

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Test Overview:

Genetic testing for GALC mutations is strongly recommended for breeds known to be affected (West Highland White Terrier, Cairn Terrier, Irish Setter, and others). Dogs with two copies of the mutant gene (affected) should not be bred to prevent producing affected puppies. Carriers (one copy) can be bred only with genetically clear dogs to avoid affected offspring. Avoid mating two carriers as it results in 25% risk of affected puppies. Share genetic test results openly among breeders to support responsible breeding programs and reduce disease prevalence.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

Galactosylceramidase (GALC) on Chromosome 8

Variant Detected:

Base Substitution c.473A>C p.Tyr158Ser

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Victoria, T. et al. Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers. (1996) Genomics. 33;457-462

Associated Breed(s):

Australian Terrier, Cairn Terrier, Dalmatian, Irish Setter, Labradoodle , Mixed Breed, Pomeranian, Spoodle, West Highland White Terrier ,

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