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[Apolipoprotein C-II deficiency]

H Inadera1

  • 1Second Department of Internal Medicine, Chiba University.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|December 1, 1994
PubMed
Summary

Apolipoprotein C-II (Apo C-II) deficiency is a rare genetic disorder affecting triglyceride metabolism. This condition leads to elevated triglycerides and associated clinical symptoms due to impaired lipoprotein lipase function.

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Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Context:

  • Apolipoprotein C-II (Apo C-II) is a crucial cofactor for lipoprotein lipase (LPL).
  • LPL enzyme activity is essential for triglyceride hydrolysis in plasma lipoproteins.
  • Apo C-II deficiency is an autosomal recessive disorder impacting lipid metabolism.

Purpose:

  • To summarize the role of Apo C-II in triglyceride metabolism.
  • To describe the clinical and biochemical features of Apo C-II deficiency.
  • To highlight the genetic basis and molecular defects associated with this rare disorder.

Summary:

  • Apo C-II deficiency results in severe hypertriglyceridemia, characterized by elevated fasting triglycerides, chylomicrons, and very-low-density lipoproteins (VLDL).
  • Clinical manifestations include lipemia retinalis, eruptive xanthomas, and a heightened risk of pancreatitis.
  • The discovery of Apo C-II's cofactor role for LPL by Breckenridge et al. was pivotal; subsequent research has identified numerous kindreds and characterized molecular defects.

Impact:

  • Establishes the critical function of Apo C-II in LPL-mediated triglyceride clearance.
  • Provides insight into the pathophysiology of genetic dyslipidemias.
  • Informs potential diagnostic and therapeutic strategies for patients with Apo C-II deficiency and related metabolic disorders.

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