OMIA 000578-9940 : Krabbe disease in Ovis aries
In other species: domestic cat , dog , Rhesus monkey Possibly relevant human trait(s) and/or gene(s) (MIM number): 245200 (trait) Mendelian trait/disorder: yes Considered a defect: yes Key variant known: no Cross-species summary: Also known as globoid cell leukodystrophy (GLD), galactosylceramide lipidosis, galactocerebrosidase deficiency, GALC deficiency, globoid cell leukoencephalopathy, galactosylceramide beta-galactosidase deficiency. A lysosomal storage disease in which there is a buildup (storage) of myelin, due to the lack of the enzyme galactosylceramidase (galactocerebrosidase), whose task is to break down myelin into its constituent molecules. Characterised by weakness progressing to paralysis.
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2015||Graziano, A.C., Cardile, V. :|
|History, genetic, and recent advances on Krabbe disease. Gene 555:2-13, 2015. Pubmed reference: 25260228. DOI: 10.1016/j.gene.2014.09.046.|
|1995||Bourke, C.A. :|
|The clinical differentiation of nervous and muscular locomotor disorders of sheep in Australia. Aust Vet J 72:228-34, 1995. Pubmed reference: 8526819.|
|1985||Suzuki, K., Suzuki, K. :|
|Genetic galactosylceramidase deficiency (globoid cell leukodystrophy, Krabbe disease) in different mammalian species. Neurochem Pathol 3:53-68, 1985. Pubmed reference: 3895053.|
|1980||Pritchard, D.H., Napthine, D.V., Sinclair, A.J. :|
|Globoid cell leucodystrophy in Polled Dorset sheep Veterinary Pathology 17:399-405, 1980. Pubmed reference: 7385575.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 24 Oct 2011