OMIA 001317-176043 : Mucopolysaccharidosis II in Nestor meridionalis
In other species: dog Possibly relevant human trait(s) and/or gene(s) (MIM number): 309900 (trait) Mendelian trait/disorder: unknown Considered a defect: yes Clinical features: Jolly et al. (2021): "a free-living kaka (Nestor meridionalis) ... exhibited weakness, incoordination and seizures." Pathology: Jolly et al. (2021): "Histopathology showed typical colloid-like cytoplasmic inclusions in Purkinje cells and many other neurons throughout the brain. Electron microscopy revealed that storage bodies contained a variety of linear, curved, or circular membranous profiles and electron-dense bodies. ... Tandem mass spectrometry revealed increased levels of heparan sulfate-derived disaccharides in the brain and liver compared with tissues from controls. Enzymatic assays documented low levels of iduronate-2-sulfatase activity, which causes a lysosomal storage disorder called mucopolysaccharidosis type II or Hunter syndrome."
|2021||Jolly, R.D., Hunter, S.A., Alley, M.R., King, B.M., Lau, A.A., Trim, P.J., Snel, M.F., Hemsley, K.M. :|
|Mucopolysaccharidosis II (MPS II) in a free-living kaka (Nestor meridionalis) in New Zealand. J Wildl Dis :, 2021. Pubmed reference: 34424960. DOI: 10.7589/JWD-D-20-00173.|
- Created by Imke Tammen2 on 25 Aug 2021