Article
Coexistence of abnormalities of hepatic lipase and lipoprotein lipase in a large family.
American journal of human genetics - 1 Mar 1990
Auwerx J H, Babirak S P, Hokanson J E, Stahnke G, Will H, Deeb S S, Brunzell J D
Abstract excerpt
A large family is reported with familial hepatic triglyceride lipase (HTGL) deficiency and with the coexistence of reduced lipoprotein lipase (LPL) similar to the heterozygote state of LPL deficiency. The proband was initially detected because of hypertriglyceridemia and chylomicronemia. He was later demonstrated to have beta-VLDL despite an apo E3/E3 phenotype and the lack of stigmata of type III...
Topics
- Adolescent
- Adult
- Child
- Electrophoresis, Agar Gel
- Female
- Gene Rearrangement
- Humans
- Lipase
- Lipoprotein Lipase
- Liver
- Male
- Middle Aged