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ApoB-deficiency (Abetalipoproteinaemia): A Model for Studying the Lipoprotein Metabolism

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Lipid Absorption: Biochemical and Clinical Aspects

Abstract

ApoB-deficiency, a very rare inborn error of lipid metabolism, was initially described by Bassen and Kornzweig (1950) on an 18-year-old girl. The most striking and evident symptoms of this syndrome — retinitis pigmentosa, neuromuscular abnormalities and malformation of erythrocytes — are the diagnostic keys for the detection of approximately 35 cases to date. Very comprehensive review articles on apoB deficiency (Bassen-Kornzweig syndrome, abetalipoproteinaemia, acanthocytosis) appeared in the literature, listing all the diagnosed patients and describing clinical abnormalities, mode of inheritance and pathophysiology (Fredrickson et al., 1972; Isselbacher et al., 1964; Kayden, 1972; and Bohlmann et al., 1972). The present article is primarily concerned with the qualitative and quantitative distribution of lipoprotein fractions in apoB-deficient sera, and the comparison of their apoprotein patterns with that of lipoprotein fractions from normal sera. In addition, the influence of the basic genetic defect upon the lipid absorption, the exocytosis of triglyceride-rich lipoproteins, as well as the lipoprotein metabolism in general will be discussed. Clinical features, peculiarities of individual patients and causes leading to the abnormal shape of red blood cells are only briefly summarized.

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  1. G. M. Kostner
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Editors and Affiliations

  1. University of Ulm, Germany

    K. Rommel  & R. Böhmer  & 

  2. University of Essen, Germany

    H. Goebell

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Kostner, G.M. (1976). ApoB-deficiency (Abetalipoproteinaemia): A Model for Studying the Lipoprotein Metabolism. In: Rommel, K., Goebell, H., Böhmer, R. (eds) Lipid Absorption: Biochemical and Clinical Aspects. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-7176-2_11

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  • DOI: https://doi.org/10.1007/978-94-011-7176-2_11

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