Product Description

Globoid cell leukodystrophy Irish Setter type, also known as Krabbe disease, is a neurological disease caused by mutation in the gene for galactocerebrosidase (GALC), enzyme responsible for the lysosomal degradation of specific galactolipids including several important in the production of compact, stable myelin. Symptoms typically appear within the first few months of life, progressing rapidly. They include blindness, tremors, incontinence and severe hind leg weakness. MRI findings are abnormal.

References:

McGraw, R.A., and Carmichael, K.P. (2006). Molecular basis of globoid cell leukodystrophy in Irish setters. Veterinary Journal 171, 370–372.