OMIA:000578 : Krabbe disease

Categories: Lysosomal storage disease

Possible human homologues (MIM numbers): 245200 (trait) , 606890 (gene)

Links to MONDO diseases:

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.

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
  • Changed by Imke Tammen2 on 21 Apr 2022
  • Changed by Imke Tammen2 on 19 Aug 2023