Multpile mutations have now been described which impair the action of LPL. These include mutations in which there is no functional protein, defects that result in the production of nonfunctional enzyme, and mutations that result in the formation of an enzyme that does not bind normally to glycosaminoglycans on endothelial cells (the normal site of action of LPL). Rarely, defective LPL function results from a mutation in a gene for the apo CII, which is a necessary cofactor for LPL (See Fig. 6.6).
