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Chylomicronemia (Lipoprotein Lipase Deficiency) Overview

Chylomicronemia (Lipoprotein Lipase Deficiency)
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Description:
Breed Affected:
 Domestic Shorthair

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


Category: Metabolic (Associated with the Body's Enzymes and Cell Metabolism)

Gene: LPL on Chromosome B1

Variant Detected: Base Substitution G>A

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive

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.

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

Associated Breed(s): Domestic Short Hair,  Domestic Medium / Long Hair,