Disease overview

Globoid cell leukodystrophy (GLD), also known as Krabbe’s disease, is an inherited central nervous system condition characterized by abnormal lysosome function. Lysosomes are important components of cells that are crucial for the breakdown and recycling of waste. If lysosomes do not function properly, waste accumulates and leads to cell death.

Gene name

GALC

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs can present with a wide range of neurological signs, as early as 4-6 weeks of age. These may include tremors, weak muscles, muscle atrophy, abnormal gait, limb paralysis, and loss of vision.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Neurological tests, including imaging, may be required for a definitive diagnosis. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

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Citations

Victoria T, Rafi MA, Wenger DA. Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers. Genomics. 1996 May 1;33(3):457-62. doi: 10.1006/geno.1996.0220. PMID: 8661004.

McGraw RA, Carmichael KP. Molecular basis of globoid cell leukodystrophy in Irish setters. Vet J. 2006 Mar;171(2):370-2. doi: 10.1016/j.tvjl.2004.10.019. PMID: 16490723.

Fletcher JL, Williamson P, Horan D, Taylor RM. Clinical signs and neuropathologic abnormalities in working Australian Kelpies with globoid cell leukodystrophy (Krabbe disease). J Am Vet Med Assoc. 2010 Sep 15;237(6):682-8. doi: 10.2460/javma.237.6.682. PMID: 20839990.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.