Categories: Lysosomal storage disease

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

Links to relevant human diseases in MONDO:

• MONDO:0009499: Krabbe disease

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)