In other species: dog

Categories: Lysosomal storage disease

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 309900 (trait)

Mendelian trait/disorder: unknown

Disease-related: 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."