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Niemann-Pick C disease is a condition where cholesterol transport is affected, leading to the buildup of a particular type of fat called sphingomyelin in cells.
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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Informazioni generali
Niemann-Pick C disease is a condition where cholesterol transport is affected, leading to the buildup of a particular type of fat called sphingomyelin in cells. The accumulation of sphingomyelin happens in lysosomes, which are cell compartments responsible for breaking down biomolecules. This buildup can disrupt the normal functioning of cells and lead to various symptoms associated with the disease.
Caratteristiche cliniche
Cats with Niemann-Pick C disease may exhibit symptoms such as incoordination, tremors, and seizures due to the impact on the nervous system. It can also lead to changes in behaviour (such as aggression or increased irritability), liver abnormalities, weight loss, poor muscle tone, and difficulty eating or swallowing.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 12809639
Omia ID: 725