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Inborn Errors of Lipoprotein Metabolism Presenting in Childhood

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Inborn Metabolic Diseases

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Zusammenfassung

Lipids are highly diverse molecules that are traditionally best known for their role in the formation of biological membranes and cellular systems and as a way to store energy. In the last decade, lipids have taken a more center stage in apoptosis, cell signaling, inflammation, immunity and inborn errors of metabolism (IEMs). Inborn errors of lipoprotein metabolism are a group of genetic disorders exemplified by changes in plasma lipids due to defects in the protein lipid-carriers (lipoproteins), lipoprotein receptors, or enzymes responsible for the hydrolysis and clearance of lipoprotein-lipid complexe. The proteins responsible for the maintenance of normal plasma and tissue lipids, which are primarily triglycerides and free and esterified cholesterol, include the apolipoproteins A-I, A-II, A-IV, A-V, B, C-I, C-II, C-III, and E with key enzymes including lipoprotein lipase (LPL), hepatic triglyceride lipase (LIPC), lecithin cholesterol acyltransferase (LCAT), and cholesterol ester transfer protein (CETP); and key receptors being the low-density lipoprotein receptor (LDL-R) for LDL-Cholesterol, and the ATP-binding cassette transporter 1 (ABC1A) for HDL-Cholesterol levels. A number of genetic abnormalities of lipoprotein metabolism have been described in childhood.

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Author information

Authors and Affiliations

  1. Inherited Metabolic Disorders, Lysosomal Disorders Unit, Institute of Immunity and Transplantation, Royal Free Hospital, Pond Street, NW3 2QG, London, UK

    Uma Ramaswami

  2. The Rayne Building, BHF Laboratories, University Street 5, WC1E 6JJ, London, UK

    Steve Humphries

Authors
  1. Uma Ramaswami
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  2. Steve Humphries
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Corresponding authors

Correspondence to Uma Ramaswami or Steve Humphries .

Editor information

Editors and Affiliations

  1. Department of Neurology, Neurometabolic Unit, Hôpital Pitié Salpêtrière, Paris, France

    Jean-Marie Saudubray

  2. Division of Metabolism, University Children’s Hospital, Zurich, Switzerland

    Matthias R. Baumgartner

  3. Willink Biochemical Genetics Unit Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK

    John Walter

  4. Central Manchester University Hospitals NHS Foundation Trust, St Mary‘s Hospital, Manchester, UK

    John Walter

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Ramaswami, U., Humphries, S. (2016). Inborn Errors of Lipoprotein Metabolism Presenting in Childhood. In: Saudubray, JM., Baumgartner, M., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49771-5_31

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  • DOI: https://doi.org/10.1007/978-3-662-49771-5_31

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-49769-2

  • Online ISBN: 978-3-662-49771-5

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