Apoprotein A-I and Lecithin: Cholesterol Acyltransferase in a Patient with Tangier Disease

  • P. Haydn Pritchard
  • Jiri Frohlich
Part of the Advances in Experimetal Medicine and Biology book series (AEMB, volume 201)


Tangier disease is a rare autosomal recessive disorder characterized by a virtual absence, of high density lipoprotein (HDL) and an accumulation of cholesteryl esters in a number of peripheral tissues (1). The exact genetic defect has not yet been fully elucidated.


High Density Lipoprotein Cholesteryl Ester Cholesteryl Ester Transfer Protein Reverse Cholesterol Transport Cholesterol Acyl Transferase 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Schaefer EJ (1984) Tangier disease and related disorders Atherosclerosis 4, 303–322.Google Scholar
  2. 2.
    Clifton-Bligh P, Nestel PJ Whyte HM (1972) Tangier disease: report of a case and studies on lipid metabolism N Engl J Med 286, 567–571.Google Scholar
  3. 3.
    Class C, Pittman RC, Civen M and Steinberg D (1985) Uptake of High Density Lipoproteins-associated apoprotein A-I and cholesterol esters by 16 tissues in the rat in vivo. J. Biol. Chem. 260, 744–750.Google Scholar
  4. 4.
    Pritchard PH, Mcleod R, Hayden MR and Frohlich J (1985) Urinary proteins in a patient with Tangier disease. Clin. Biochem. 18, 98–101.PubMedCrossRefGoogle Scholar
  5. 5.
    Pritchard PH, Mah E, McLeod R, Frohlich J and Lacko AG (1985) Lecithin: cholesterol acyltransferase in a patient with Tangier disease. Fed. Proc. 44, 1786Google Scholar
  6. 6.
    Rail SC, Weisengraber KH, Mahley RW, Ogawa Y, Fielding CJ, Utermann G, Haas J, Steinmetz, Menzel H-J, Assmann G. (1984) Abnormal lecithin:cholesterol acyltransferase activation by a human apolipoprotein A-I variant in which a single lysine residue is deleted. J. Biol. Chem. 259, 10063–10070.Google Scholar

Copyright information

© Springer Science+Business Media New York 1986

Authors and Affiliations

  • P. Haydn Pritchard
    • 1
  • Jiri Frohlich
    • 1
  1. 1.Department of Pathology, Shaughnessy Hospital Lipid Research GroupUniversity of British ColumbiaVancouverCanada

Personalised recommendations