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This review focuses on the disorders involved in the biosynthesis of phospholipids. Phospholipids are involved in uncountable cellular processes, e.g. as structural components of membranes, by taking part in vesicle and mitochondrial fusion and fission or signal transduction. Here we provide an overview on both pathophysiology and the extremely heterogeneous clinical presentations of the disorders reported so far (Sengers syndrome (due to mutations in <jats:italic>AGK<\/jats:italic>), MEGDEL syndrome (or SERAC defect, <jats:italic>SERAC1<\/jats:italic>), Barth syndrome (or TAZ defect, <jats:italic>TAZ<\/jats:italic>), congenital muscular dystrophy due to CHKB deficiency (<jats:italic>CHKB<\/jats:italic>). Boucher\u2010Neuh\u00e4user\/Gordon Holmes syndrome (<jats:italic>PNPLA6<\/jats:italic>), PHARC syndrome (<jats:italic>ABHD12<\/jats:italic>), hereditary spastic paraplegia type 28, 54 and 56 (HSP28, <jats:italic>DDHD1<\/jats:italic>; HSP54, <jats:italic>DDHD2<\/jats:italic>; HSP56, <jats:italic>CYP2U1<\/jats:italic>), Lenz Majewski syndrome (<jats:italic>PTDSS1<\/jats:italic>), spondylometaphyseal dysplasia with cone\u2010rod dystrophy (<jats:italic>PCYT1A<\/jats:italic>), atypical haemolytic\u2010uremic syndrome due to DGKE deficiency (<jats:italic>DGKE<\/jats:italic>).<\/jats:p>","DOI":"10.1007\/s10545-014-9759-7","type":"journal-article","created":{"date-parts":[[2014,9,1]],"date-time":"2014-09-01T08:00:56Z","timestamp":1409558456000},"page":"99-110","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":44,"title":["Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids"],"prefix":"10.1002","volume":"38","author":[{"given":"Saskia B.","family":"Wortmann","sequence":"first","affiliation":[{"name":"Nijmegen Centre for Mitochondrial Disorders (NCMD) at the Amalia Children's Hospital, Radboudumc P.O. 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