Article
Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene.
Annals of clinical biochemistry - 1 Jul 2013
Overgaard Martin, Brasen Claus Lohman, Svaneby Dea, Feddersen Søren, Nybo Mads
Abstract excerpt
Familial lipoprotein lipase (LPL) deficiency (FLLD) is a rare autosomal recessive genetic disorder caused by homozygous or compound heterozygous mutations in the LPL gene. FLLD individuals usually express an impaired or non-functional LPL enzyme with low or absent triglyceride (TG) hydrolysis activity causing severe hypertriglyceridaemia. Here we report a case of FLLD in a 29-year-old man, who initially presented...
Topics
- Adult
- Gene Duplication
- Genetic Carrier Screening
- Humans
- Hyperlipoproteinemia Type I
- Lipoprotein Lipase
- Male
- Mutation