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OMIA:000402-8790 : Gangliosidosis, GM1 in Dromaius novaehollandiae (emu)

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

Categories: Lysosomal storage disease

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 230500 (trait) , 230650 (trait) , 230600 (trait) , 253010 (trait) , 611458 (gene)

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.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2005). OMIA:000402-8790: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

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.

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  • Created by Frank Nicholas on 06 Sep 2005