In other species: dog

Categories: Lysosomal storage disease

Possibly relevant human trait(s) and/or gene(s) (MIM number): 309900 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

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

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."