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 , 230650

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.

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