OMIA 000578 : Krabbe disease

Possible human homologue (MIM number): 245200 (trait)

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.

Species in which this phene is found:
Rhesus monkey (Macaca mulatta)
dog (Canis lupus familiaris)
domestic cat (Felis catus)
sheep (Ovis aries)

Edit History

  • Created by Frank Nicholas on 08 Jun 2011