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Chylomicronemia - Lipoprotein Lipase Deficiency (Domestic Type)

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Description:

Cats have a defective lipoprotein lipase (LPL) deficiency. Symptoms include reduced body mass, growth rates and an increased number of stillbirths.

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.

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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