OMIA:000578-9685 : Krabbe disease in Felis catus (domestic cat) |
In other species: Rhesus monkey , dog , sheep
Categories: Lysosomal storage disease
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 245200 (trait) , 606890 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Disease-related: 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.
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2005). OMIA:000578-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005