[Primary lipoprotein lipase deficiency: clinical and genetic aspects].

Abstract excerpt

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...

Topics

• Adult
• Chylomicrons
• Female
• Genes, Recessive
• Humans
• Infant
• Lipoprotein Lipase
• Male
• Mutation
• Pancreatitis
• Xanthomatosis