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Disorders of Intracellular Triglyceride and Phospholipid Metabolism

  • Chapter
Inborn Metabolic Diseases

Zusammenfassung

Acylglycerols and phospholipids play a myriad of organ-specific roles in cell structure, biochemistry and signalling. Inborn errors of glycerolipid metabolism cause a correspondingly vast array of clinical phenotypes. Molecular analysis is currently the principal diagnostic technique. Next generation sequencing has recently led to the discovery of several genetic defects of the biosynthesis and remodelling of triglycerides, other acylglycerols and of PLs. Few disorders of glycerolipid metabolism have distinct metabolite patterns by conventional techniques, but lipidomic analysis is a promising new approach that may expand the role of biochemical diagnosis. The discovery of many new inborn errors of glycerolipid metabolism offers unprecedented opportunities for clinical description and for rethinking clinical intervention. Some of these conditions produce striking clinical syndromes identifiable in infancy; others, mildly atypical forms of common adult conditions like metabolic syndrome and type II diabetes. Inborn errors of intracellular TG metabolism, reviewed in, often affect adipose tissue, but non-adipose signs can dominate their clinical presentation. Disorders of extracellular TG-containing lipoproteins are discussed in Chapter 31. Inborn errors of PL metabolism often affect the central and peripheral nervous systems, but also muscle, eye, skin, bone, cartilage, liver, kidney and immune system. Here we summarize the current clinical understanding of inborn errors of glycerolipid metabolism, recognizing that to date many of the conditions are only partially described in small numbers of patients and that some steps of glycerolipid metabolism are not yet associated with an inborn error.

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Authors and Affiliations

  1. Hôpital Pitié Salpêtrière, Department of Biochemistry, Neurometabolic Unit, 47-83 Boulevard de l’Hôpital, 75651, Paris Cedex 13, France

    Foudil Lamari

  2. 22 rue Juliette Lamber, 75017, Paris, USA

    Jean-Marie Saudubray

  3. Department of Pediatrics, Division of Medical Genetics, University of Montreal, 3175, Chemin de la Côte Sainte-Catherine, H3T 1C5, Montreal, Quebec, Canada

    Grant A. Mitchell

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  1. Foudil Lamari
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  2. Jean-Marie Saudubray
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  3. Grant A. Mitchell
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Correspondence to Foudil Lamari , Jean-Marie Saudubray or Grant A. Mitchell .

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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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Lamari, F., Saudubray, JM., Mitchell, G.A. (2016). Disorders of Intracellular Triglyceride and Phospholipid Metabolism. In: Saudubray, JM., Baumgartner, M., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49771-5_34

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