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Hypolipoproteinemia and Lipoprotein Lipase Deficiency

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Inborn Metabolic Diseases

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Abstract

Hypolipidemias and deficiencies of the enzymes involved in lipoprotein metabolism occur less commonly than hyperlipoproteinemias. The discovery of the pathophysiological mechanism in these disorders has contributed to our understanding of the diverse functions of different lipoproteins and enzymes in lipoprotein metabolism. Apoprotein B (apo B)-containing lipoproteins are essential for the transportation of both exogenous and endogenous fat and for the delivery of cholesterol to cells. A functional high-density lipoprotein (HDL) system is a prerequisite for reverse cholesterol transport. Because the metabolism of different lipoproteins is closely linked, the lack of one lipoprotein or enzyme causes multiple changes in the plasma lipoprotein pattern. The crucial role of an intact lipoprotein system is manifested by severe symptoms apparent from multiple organs in abetalipoproteinemia (ABL), HDL deficiencies, and lecithin-cholestrol acetyltransferase (LCAT) deficiency. Hypolipidemias and enzyme deficiencies can be either primary genetic disorders or can occur secondarily. This chapter will focus on primary hypolipidemias and lipoprotein lipase deficiency.

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Authors
  1. M.-R. Taskinen
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Editors and Affiliations

  1. Department of Pediatrics, University Hospital, Oostersingel 59, 9713 EZ, Groningen, The Netherlands

    John Fernandes M. D. (Professor of Pediatrics) (Professor of Pediatrics)

  2. Clinique de Génétique Médicale, Hôpital des Enfants Malades, 149, rue de Sèvres, 75743, Paris Cedex, France

    Jean-Marie Saudubray M. D. (Professor of Pediatrics) (Professor of Pediatrics)

  3. Department of Pediatrics, Tohoku University, School of Medicine, 1-1 Seiryo-machi, Sendai 980, Japan

    Keiya Tada M. D. (Professor of Pediatrics) (Professor of Pediatrics)

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© 1990 Springer-Verlag Berlin Heidelberg

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Taskinen, MR. (1990). Hypolipoproteinemia and Lipoprotein Lipase Deficiency. In: Fernandes, J., Saudubray, JM., Tada, K. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-02613-7_30

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  • DOI: https://doi.org/10.1007/978-3-662-02613-7_30

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-02615-1

  • Online ISBN: 978-3-662-02613-7

  • eBook Packages: Springer Book Archive

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