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Krabbe Disease, also known as Globoid Cell Leukodystrophy or GALC Deficiency, is a severe metabolic disorder that causes neuromuscular issues such as weakness and paralysis.
Working days 10
Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Informazioni generali
Krabbe Disease, also known as Globoid Cell Leukodystrophy or GALC Deficiency, is a severe metabolic disorder that causes neuromuscular issues such as weakness and paralysis. It is caused by a recessive mutation to the gene GALC. The variant analysed in this test occurs in the Cairn Terrier and West Highland White Terrier. A closely related variant has been observed in the Irish Setter.
Caratteristiche cliniche
Affected puppies present at approximately 4 to 6 weeks of age with tremors, limb weakness, ataxia (loss of coordination), muscle atrophy and paralysis. The disease is progressive, and by the age of 9 months, the symptoms are likely to be severe enough to warrant euthanasia on humane grounds.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 8661004
Omia ID: 578
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