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

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: Also known as globoid cell leukodystrophy. 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.

References


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.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 24 Oct 2011