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Abetalipoproteinemia

  • Herbert J. Kayden

Abstract

In this volume on low density lipoproteins (LDL), the inclusion of a chapter concerned with the most severe aberration of this lipoprotein species, namely its absence, may require some justification. Perhaps the most satisfactory explanation is to call attention to the overlapping heterogeneity of the lipoprotein classes and to emphasize the interdependence of all the human lipoproteins. The intensive study of patients with abetalipoproteinemia (ABL) has provided a wealth of information for investigators interested in lipid metabolism, lipoprotein structure and function, as well as for hematologists, neurologists, gastroenterologists, and ophthalmologists. I do not intend to cover most of the areas just mentioned, since recent reviews provide adequate reference material.1,2 Abnormalities in the composition of the high density lipoproteins (HDL), in particular of the A apoproteins, and of the C apoproteins will be reviewed. There have been several studies of the activity of lecithin: cholesterol acyltransferase (LCAT) in patients with abetalipoproteinemia; although there are important differences in the assay systems used by the different groups, there is consensus that the enzyme activity is reduced in patients with ABL. These studies and the consequences of decreased LCAT activity will also be reviewed. It also seems appropriate in this chapter to comment upon certain genetic relationships that have been reported between hypobetalipoproteinemia and abetalipoproteinemia.

Keywords

High Density Lipoprotein Cholesteryl Ester High Density Lipoprotein High Density Lipoprotein Particle Lipoprotein Structure 
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.

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References

  1. 1.
    H. J. Kayden. 1972. Abetalipoproteinemia. Annu. Rev. Med. 22:285–296.CrossRefGoogle Scholar
  2. 2.
    D. S. Fredrickson, A. M. Gotto, and R. I. Levy. 1972. Familial lipoprotein deficiency. In: The Metabolic Basis of Inherited Disease. Ed. by J. B. Stanbury, J. B. Wyngaarden and D. S. Fredrickson. McGraw-Hill, New York, pp. 499–509.Google Scholar
  3. 3.
    R. J. Havel, H. A. Eder, and J. H. Bragdon. 1955. The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum. J. Clin. Invest. 34:1345–1353.PubMedCrossRefGoogle Scholar
  4. 4.
    J. W. Jones and P. Ways. 1967. Abnormalities of high density lipoproteins in abetalipoproteinemia. J. Clin. Invest. 46:1151–1161.PubMedCrossRefGoogle Scholar
  5. 5.
    A. M. Gotto, R. I. Levy, K. John, and D. S. Fredrickson. 1971. On the protein defect in abetalipoproteinemia. N. Engl.J. Med. 284:813–818.PubMedCrossRefGoogle Scholar
  6. 6.
    A. M. Scanu, L. P. Aggerbeck, A. W. Kruski, C. T. Lim, and H. J. Kayden. 1974. A study of the abnormal lipoproteins in abetalipoproteinemia. J. Clin. Invest. 53:440–453.PubMedCrossRefGoogle Scholar
  7. 7.
    G. Kostner, A. Holasek, H. G. Bohlman, and H. Thiede. 1974. Investigation of serum lipoproteins and apoproteins in abetalipoproteinemia. Clin. Sci. Mol. Med. 46:457–468.PubMedGoogle Scholar
  8. 8.
    C. T. Lim, J. Chung, H. J. Kayden, and A. M. Scanu. 1976. Apoproteins of human serum high density lipoproteins: Isolation and characterization of the peptides of Sephadex fraction V from normal subjects and patients with abetalipoproteinemia. Biochim. Biophys. Acta 420:332–341.PubMedGoogle Scholar
  9. 9.
    T. Forte and A. V. Nichols. 1972. Application of electron microscopy to the study of plasma lipoprotein structure. Adv. Lipid Res. 10:1–41.PubMedGoogle Scholar
  10. 10.
    R. I. Levy, D. S. Fredrickson, and L. Laster. 1966. The lipoproteins and lipid transport in abetalipoproteinemia. J. Clin. Invest. 45:531–541.PubMedCrossRefGoogle Scholar
  11. 11.
    R. A. Cooper and C. L. Gulbrandsen. 1971. The relationship between serum lipoproteins and red cell membranes in abetalipoproteinemia: Deficiency of lecithincholesterol acyl transferase. J. Lab. Clin. Med. 78:323–335.PubMedGoogle Scholar
  12. 12.
    R. L. Hamilton and H. J. Kayden. 1975. The liver and the formation of normal and abnormal lipoproteins. In: The Liver: Normal and Abnormal Functions. Ed. by F. S. Becker. Marcel Dekker, New York, pp. 531–572.Google Scholar
  13. 13.
    C. Cottril, C. J. Glueck, V. Leuba, F. Millett, D. Puppione, and W. V. Brown. 1974. Familial homozygous hypobetalipoproteinemia. Metabolism 23:779–793.CrossRefGoogle Scholar
  14. 14.
    J. J. Biemer and R. E. McCammon. 1975. The genetic relationship of abetalipoproteinemia and hypobetalipoproteinemia: A report of the occurrence of both diseases within the same family. J. Lab. Clin. Med. 85:556–565.PubMedGoogle Scholar

Copyright information

© Plenum Press, New York 1976

Authors and Affiliations

  • Herbert J. Kayden
    • 1
  1. 1.Department of MedicineNew York University School of MedicineNew YorkUSA

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