Chylomicronemia - Lipoprotein Lipase Deficiency (Domestic Type) Overview
Chylomicronemia - Lipoprotein Lipase Deficiency (Domestic Type)
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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, Mixed Breed / Unknown Breed (Feline),