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Chylomicronemia - Lipoprotein Lipase Deficiency (Domestic Type)

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Test Overview:

Affected cats with chylomicronemia share many phenotypic features with human lipoprotein lipase (LPL) deficiency. Biochemical analysis reveals that these cats do have defective LPL catalytic activity and have a clinical phenotype very similar to human LPL deficiency. Symptoms include reduced body mass, growth rates and an increased rate of stillbirths.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

LPL on Chromosome B1

Variant Detected:

Base Substitution G>A

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

J Clin Invest. 1996 Mar 1;97(5):1257-66

Associated Breed(s):

Domestic Medium / Long Hair, Domestic Short Hair, Mixed Breed / Unknown Breed (Feline),
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