OMIA:002786-39958 : Lipid storage disease in Lophorina superba (superb bird of paradise)
Categories: Homeostasis / metabolism phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Mode of inheritance: Probably autosomal recessive
Considered a defect: yes
Cross-species summary: inherited glycerolipid storage disease
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: McKenzie et al. (2023) report a primary inherited glycerolipid storage disease in 4 female superb bird-of-paradise siblings: "The birds ranged from 0.75 to 4.3 years of age at the time of death."
Pathology: McKenzie et al. (2023): "Macroscopic findings included hepatomegaly and pallor (4/4), cardiac and renal pallor (2/4), and coelomic effusion (1/4). Microscopic examination found marked tissue distortion due to cytoplasmic lipid vacuoles in hepatocytes (4/4), cardiomyocytes (4/4), renal tubular epithelial cells (4/4), parathyroid gland principal cells (2/2), exocrine pancreatic cells (3/3), and the glandular cells of the ventriculus and proventriculus (3/3). Ultrastructurally, the lipids were deposited in single to coalescing or fused droplets lined by an inconspicuous or discontinuous monolayer membrane. Lipidomic profiling found that the cytoplasmic lipid deposits were primarily composed of triacylglycerols."
Cite this entry
|2023||McKenzie, C.M., Marinkovich, M., Armién, A.G., Leger, J.S., Armando, A.M., Dennis, E.A., Quehenberger, O., Righton, A. :|
|Lipid storage disease in 4 sibling superb birds-of-paradise (Lophorina superba). Vet Pathol :3009858231203314, 2023. Pubmed reference: 37842940. DOI: 10.1177/03009858231203314.|
- Created by Imke Tammen2 on 18 Oct 2023
- Changed by Imke Tammen2 on 18 Oct 2023