Categories: Lysosomal storage disease

Possible human homologues (MIM numbers): 230500 (trait) , 230650 (trait) , 230600 (trait) , 253010 (trait) , 611458 (gene)

Links to MONDO diseases: No links.

Cross-species summary: A lysosomal storage disease in which there is a buildup (storage) of GM1 gangliosides (a type of glycolipid) in various tissues, due to the lack of the enzyme beta-galactosidase, whose task is to break down the GM1 ganglioside into its constituents. Characterised by progressive neuromuscular dysfunction and impaired growth from an early age.

Species in which this phene is found:
emu (Dromaius novaehollandiae)
dog (Canis lupus familiaris)
domestic cat (Felis catus)
taurine cattle (Bos taurus)
sheep (Ovis aries)