Molecular Genetics of ApoC-II and Lipoprotein Lipase Deficiency

  • S. S. Fojo
  • J. L. de Gennes
  • U. Beisiegel
  • G. Baggio
  • A. F. H. Stalenhoef
  • J. D. Brunzell
  • H. B. BrewerJr
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 285)


Apolipoprotein (apo) C-II plays a central role in normal triglyceride metabolism as cofactor for the enzyme lipoprotein lipase (LPL). Patients with a deficiency of either apoC-II or LPL have marked derangements in triglyceride metabolism which include an elevation of plasma triglycerides, fasting chylomicrons and VLDL (1). Clinical features of this syndrome, which is inherited as an autosomal recessive trait, include hepatosplenomegaly, eruptive xanthomas and an increased risk of pancreatitis. The diagnosis of apoC-II or LPL deficiency is established by finding a reduced post-heparin lipoprotein lipase activity which in apoC-II deficiency is corrected by the addition of normal apoC-II containing plasma.


Autosomal Recessive Trait Lipoprotein Lipase Deficiency Eruptive Xanthoma Molony Murine Leukemia Virus Calcium Phosphate Coprecipitation Method 
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Copyright information

© Plenum Press, New York 1990

Authors and Affiliations

  • S. S. Fojo
    • 1
  • J. L. de Gennes
    • 2
  • U. Beisiegel
    • 3
  • G. Baggio
    • 4
  • A. F. H. Stalenhoef
    • 5
  • J. D. Brunzell
    • 6
  • H. B. BrewerJr
    • 1
  1. 1.NIHBethesdaUSA
  2. 2.Groupe d’Endocrinologie-MetabolismParisFrance
  3. 3.Univ. Klinik EppendorfHamburgGermany
  4. 4.Univ. of PadovaPadovaItaly
  5. 5.St. Radboud HospitalNijmegenThe Netherlands
  6. 6.Univ. of WashingtonSeattleUSA

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