In other species: emu , red 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. Updated species information to reflect that two different species were reported 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 an orphaned hand-reared 12-month-old female eastern grey kangaro who "despite good care ... failed to thrive. It became depressed 6 to 7 wk prior to death, and developed diarrhoea, anorexia and halitosis. Hematuria and proteinuria were detected 3wk prior to death … . Convulsions started and became progressively more frequent with the animal dying during a spasm 1 wk later." 

Pathology: Rothwell et al. (1990): Necropsy of the affected animal revealed a small carcass for the animal's age and malocclusion. "Numerous yellow, 1-2mm granular lesions were seen in the mesentry, liver, lymph nodes, heart and spleen. The kidneys appeared swollen and pale." On histopathology, the "splenic parenchyma was almost completely replaced by large round cells with peripheral ovoid nuclei and vesicular chromatin, containing abundant foamy, pale, eosinophilic cytoplasm. This material was periodic acid-Schiff (PAS) positive, Ziehl-Neilsen negative, Giemsa negative, Luxol-fast blue negative and did not autofluoresce.  Similarly, in a mesenteric lymph node, the normal structures were large displaced by foamy cells. Large aggregates of foamy cells were present throughout the hepatic parenchyma ... and throughout the lamina propria and submucosa of the stomach. The gastric mucosa was atrophic. Small clumps of foamy cells were present in the glomeruli ... , renal interstitium and at the junction of the adrenal cortex and medulla. The tunica muscularis of several arteries and arterioles in various organs was distended with foamy cells. There was segmental renal tubular nephrosis with degeneration and mineralisation of tubular epithelial cells and a diffuse, moderate, hepatic lipidosis.”