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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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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | D3 |
| Mutation | c.1322A>C |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Informations générales
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.
Caractéristiques cliniques
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.
Additional Information
Références
Pubmed ID: 28233346
Year published: 2017
Omia ID: 725
Omia variant ID: 146