In other species: emu , eastern gray kangaroo , dog , domestic cat , taurine cattle

Categories: Lysosomal storage disease

Single-gene trait/disorder: unknown

Disease-related: yes

Species summary: Previously listed as OMIA:000616-9322: Lysosomal Storage Disease in Macropus. Species information was updated to reflect that animals from two different species were reported with similar clinical and pathological signs: Macropus rufus (OMIA:000616-9321) and Marcopus giganteus (OMIA:000616-9317) [09/09/2025]. [IT thanks Emma Faull for contributions to this entry in September 2025]

Clinical features: Rothwell et al. (1990) reported a captive raised 8-month-old female red kangaroo which initially presented with lameness and later became comatose and febrile with "tachycardia and pale mucous membranes". 

Pathology: Rothwell et al. (1990) observed no gross pathology at necropsy. Histopathology of liver and kidney showed foamy, pale eosinophilic, periodic acid-Schiff positive, intracytoplasmic material "with large aggregates of foamy cells in the renal interstium. In the spinal cord, brain-stem and cerebellar white matter there was a moderate active degeneration of myelin with swelling of axons consistent with Wallerian-type degeneration. The cerebellar Purkinje cells, ventral motor horn neurons and many brain stem neurons exhibited vacuolation of the cytoplasm ... and these vacuoles stained PAS positive. There was moderate loss of cerebellar Purkinje cells. Numerous swollen glial cells containing PAS positive material were present in the area of the lateral vestibular nuclei. In the central cerebral white matter, the perivascular spaces of some large blood vessels were dilated and contained some foamy macrophages, which stained PAS positive." Electron microscopic study revealed electron dense, cytoplasmic lamellar bodies in neurons and foamy visceral cells.