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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.

12 Arbeidsdager

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Spesifikasjoner

Breeds

Gene

Organ

specimen

Svaber, EDTA blod, heparinblod, sæd, vev

Mode of Inheritance

Chromosome

Year Published

Generell informasjon

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.

Kliniske egenskaper

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.

Tilleggsinformasjon

Referanser

Pubmed ID: 28233346

Omia ID: 725

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