Deutsch
Hrvatski
Русский
Português
Globoid Cell Leukodystrophy Irish Setter type (GLD)
| Acronym: | GLD, KRABBE |
| Gene: | GALC |
| Mutation: | c.790_791insN[78] |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Globoid cell leukodystrophy Irish Setter type, also known as Krabbe disease, is a neurological disease caused by a mutation in the gene for galactocerebrosidase (GALC), an 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.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
McGraw, R.A., and Carmichael, K.P. (2006). Molecular basis of globoid cell leukodystrophy in Irish setters. Veterinary Journal 171, 370–372.