This site is intended for healthcare professionals
Login | Register (NOW FREE)

Medical search

Bassen-Kornzweig syndrome

FREE subscriptions for doctors and students... click here
You have 3 open access pages.

Abetalipoproteinaemia is a disorder in the synthesis of serum lipoproteins containing apolipoprotein B, for example chylomicrons, VLDL and LDL.

  • a rare autosomal recessive metabolic disorder
    • characterized by extremely low levels of plasma cholesterol and triglycerides and almost complete absence of lipoproteins in the density ranges of chylomicrons, VLDL and LDL
  • plasma lipids are carried almost entirely in the high density lipoproteins class
  • patients suffer from fat malabsorption
    • may present with failure to thrive in early childhood
      • in later childhood patients develop a progressive, ataxic neuropathy and retinopathy, attributed in part to deficiency of fat soluble vitamins, specifically vitamins E and A
  • combined high dose vitamin E and vitamin A therapy does confer protection against severe retinal degeneration, fundoscopic and functional retinal changes have been demonstrated, suggesting a role for other factors, including polyunsaturated fatty acid deficiency and ongoing oxidative damage


  • (1) J. Kane and R. Havel, Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins. In: C. Scriver, A. Beaudet, W. Sly and D. Valle, Editors, The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill, New York (2001): 2717-2752.
  • (2) Granot E, Kohen R.Oxidative stress in abetalipoproteinemia patients receiving long-term vitamin E and vitamin A supplementation, Am. J. Clin. Nutr. 2004;79: 226-230
  • (3) Sharp, D. et al. Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia. Nature 1993;365: 65-9.


The information provided herein should not be used for diagnosis or treatment of any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions. Copyright 2016 Oxbridge Solutions LtdĀ®. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions LtdĀ® receives funding from advertising but maintains editorial independence. GPnotebook stores small data files on your computer called cookies so that we can recognise you and provide you with the best service. If you do not want to receive cookies please do not use GPnotebook.