Deletion of GPIHBP1 causing severe chylomicronemia

  title={Deletion of GPIHBP1 causing severe chylomicronemia},
  author={Jonathan J. Rios and Savitha Shastry and Juan Jasso and Natalie Hauser and Abhimanyu Garg and Andr{\'e} Bensadoun and Jonathan C. Cohen and Helen H. Hobbs},
  booktitle={Journal of Inherited Metabolic Disease},
Lipoprotein lipase (LPL) is a hydrolase that cleaves circulating triglycerides to release fatty acids to the surrounding tissues. The enzyme is synthesized in parenchymal cells and is transported to its site of action on the capillary endothelium by glycophosphatidylinositol (GPI)-anchored high-density lipoprotein-binding protein 1 (GPIHBP1). Inactivating mutations in LPL; in its cofactor, apolipoprotein (Apo) C2; or in GPIHBP1 cause severe hypertriglyceridemia. Here we describe an individual… CONTINUE READING