OMIA:000402-8790 : Gangliosidosis, GM1 in Dromaius novaehollandiae (emu)
Categories: Lysosomal storage disease
Links to MONDO diseases: No links.
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.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
|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