OMIA 000402-8790 : Gangliosidosis, GM1 in Dromaius novaehollandiae
In other species: dog , domestic cat , cattle , sheep Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 230500 (trait) , 230650 (trait) , 230600 (trait) , 253010 (trait) , 611458 (gene) Mendelian trait/disorder: unknown Considered a defect: 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.
|1995||Bermudez, A.J., Johnson, G.C., Vanier, M.T., Schroder, M., Suzuki, K., Stogsdill, P.L., Johnson, G.S., Obrien, D., Moore, C.P., Fry, W.W. :|
|Gangliosidosis in emus (Dromaius novaehollandiae) Avian Diseases 39:292-303, 1995. Pubmed reference: 7677649.|
- Created by Frank Nicholas on 06 Sep 2005