In other species: dog , domestic cat , taurine cattle , sheep

Categories: Lysosomal storage disease

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 230500 (trait) , 230650 (trait) , 230600 (trait) , 253010 (trait) , 611458 (gene)

Mendelian trait/disorder: unknown

Disease-related: yes

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.