Article
Familial lipoprotein lipase deficiency caused by known (G188E) and novel (W394X) LPL gene mutations.
Annals of clinical biochemistry - 1 Jan 2008
Hooper A J, Crawford G M, Brisbane J M, Robertson K, Watts G F, van Bockxmeer F M, Burnett J R
Abstract excerpt
Lipoprotein lipase (LPL) is the key enzyme in the catabolism of triglyceride-rich lipoproteins in the circulation. Familial LPL deficiency is characterized by hypertriglyceridaemia and absence of LPL activity. We report a case of LPL deficiency in a 43-year-old woman, who initially presented in childhood with chylomicronaemia syndrome. At that time, her plasma triglyceride concentration was approximately 30...
Topics
- Adult
- Aged
- Amino Acids
- Child
- Female
- Humans
- Hyperlipoproteinemia Type I
- Lipoprotein Lipase
- Male
- Middle Aged
- Mutation
- Pedigree