[Primary lipoprotein lipase deficiency: clinical and genetic aspects]

Primary deficiency of the enzyme lipoprotein lipase (LPL) is an autosomal recessive disorder characterized by chylomicronemia, recurrent pancreatitis and xanthomas. In recent years, a growing number of mutations have been identified in patients with this inherited disorder and molecular defects include insertions and deletions, splicing defects, and nonsense and missense mutations. Most of these mutations are clustered in the region encoded by exon 4, 5 and 6 which forms the catalytic domain of LPL. The study of these mutations also contributes to our understanding of the structure, function relationships of the enzyme.