Journal of Inherited Metabolic Disease

, Volume 38, Issue 1, pp 3–18 | Cite as

An overview of inborn errors of complex lipid biosynthesis and remodelling

  • Foudil Lamari
  • Fanny Mochel
  • Jean-Marie Saudubray
Complex Lipids


In a review published in 2012, we delineated 14 inborn errors of metabolism (IEM) related to defects in biosynthesis of complex lipids, particularly phospholipids and sphingolipids (Lamari et al 2013). Given the numerous roles played by these molecules in membrane integrity, cell structure and function, this group of diseases is rapidly expanding as predicted. Almost 40 new diseases related to genetic defects in enzymes involved in the biosynthesis and remodelling of phospholipids, sphingolipids and complex fatty acids are now reported. While the clinical phenotype associated with these defects is currently difficult to outline, with only a few patients identified to date, it appears that all organs and systems may be affected — central and peripheral nervous system, eye, muscle, skin, bone, liver, immune system, etc. This chapter presents an introductive overview of this new group of IEM. More broadly, this special issue provides an update on other IEM involving complex lipids, namely dolichol and isoprenoids, glycolipids and congenital disorders of glycosylation, very long chain fatty acids and plasmalogens. Likewise, more than 100 IEM may actually lead to primary or secondary defects of complex lipids synthesis and remodelling. Because of the implication of several cellular compartments, this new group of disorders affecting the synthesis and remodelling of complex molecules challenges our current classification of IEM still largely based on cellular organelles—i.e. mitochondrial, lysosomal, peroxisomal disorders. While most of these new disorders have been identified by next generation sequencing, we wish to emphasize the promising role of lipidomics in deciphering their pathophysiology and identifying therapeutic targets.


Phytanic Acid Fatty Acid Synthesis Phosphatidic Acid Lipoic Acid Complex Lipid 
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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Copyright information

© SSIEM 2014

Authors and Affiliations

  • Foudil Lamari
    • 1
    • 2
  • Fanny Mochel
    • 1
    • 3
    • 4
  • Jean-Marie Saudubray
    • 1
    • 5
  1. 1.Bioclinic and Genetic Unit of Neurometabolic DiseasesPitié-Salpêtrière Hospital, (APHP)ParisFrance
  2. 2.Department of Metabolic BiochemistryPitié-salpêtrière Hospital (APHP)ParisFrance
  3. 3.Inserm U 1127, CNRS UMR 7225Sorbonne UniversitésParisFrance
  4. 4.Department of GeneticPitié-Salpêtrière Hospital, (APHP)ParisFrance
  5. 5.ParisFrance

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