A Chinese patient with recurrent pancreatitis during pregnancy induced by hypertriglyceridemia associated with compound heterozygosity (Glu242Lys and Leu252VaL) in the lipoprotein lipase gene.

Abstract excerpt

We herein report a novel compound heterozygote of Glu242Lys and Leu252Val in a Chinese patient, characterized by recurrent hypertriglyceridemia-induced acute pancreatitis caused by lipoprotein lipase deficiency. The proband's LPL level after injection of heparin was measured at 184 U/L, considerably lower than the normal controls (382 U/L). Furthermore, LPL activity in the proband was 16.7% of the normal...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Base Sequence
• Share to Heterozygote