OMIA:000578-9685 : Krabbe disease in Felis catus |
In other species: Rhesus monkey , dog , sheep
Categories: Lysosomal storage disease
Possibly relevant human trait(s) and/or gene(s) (MIM number): 245200 (trait)
Links to MONDO diseases: No links.
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.
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. | |
| 2005 | Salvadori, C., Modenato, M., Corlazzoli, DS., Arispici, M., Cantile, C. : |
| Clinicopathological features of globoid cell leucodystrophy in cats. J Comp Pathol 132:350-6, 2005. Pubmed reference: 15893994 . DOI: 10.1016/j.jcpa.2004.12.001. | |
| 2002 | Sigurdson, C.J., Basaraba, R.J., Mazzaferro, E.M., Gould, D.H. : |
| Globoid cell-like Leukodystrophy in a domestic longhaired cat Veterinary Pathology 39:494-496, 2002. Pubmed reference: 12126153 . | |
| 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 . |
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- Created by Frank Nicholas on 06 Sep 2005