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Chylomicronemia - Lipoprotein Lipase Deficiency (Domestic Type)
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),