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Lipoprotein Deficiency (LPL) Overview

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

Gene: LPL

Variant Detected: Base Substitution

Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

Mode of Inheritance: Autosomal Recessive

Test Overview: Cats with LLPL) do have defective LPL catalytic activity and have a clinical phenotype very similar to human LPL deficiency. Affected cat has a nucleotide change resulting in a substitution of arginine for glycine at residue 412 in exon 8. In vitro mutagenesis and expression studies, in addition to segregation analysis, have shown that this DNA change is the cause of LPL.

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


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