Hyperlipoproteinaemia
Kodas: K599
Short description
Lipoprotein lipase (LPL) is an enzyme important in the regulation of lipoprotein and lipid metabolism.
General information
Lipoprotein lipase (LPL) is an enzyme important in the regulation of lipoprotein and lipid metabolism. LPL deficiency is a disorder which manifests in acute pancreatitis, chylomicronemia, weight loss, bumps on the skin and lipemia retinalis. Cats with chylomicronemia are phenotypically similar to humans with LPL deficiency.
Specifications
| Breeds | All Breeds |
|---|---|
| Gene | LPL |
| Chromosome | B1 |
| Mutation | c.1234G>A |
| Organ | Cardiovascular System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | LPL; lipoprotein lipase deficiency |
Clinical features
Cats with hyperlipoproteinaemia will develop symptoms at young age and consists of reduced body mass, reduced growth rates and increased stillbirth rates.
References
Pubmed ID: 8636438
Year published: 1996
Omia ID: 1210
Omia variant ID:
Turnaround information
- 10 working days