title: Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.
abstract: Since the proposal to define a separate subgroup of inborn errors of metabolism involved in the biosynthesis and remodelling of phospholipids, sphingolipids and long chain fatty acids in 2013, this group is rapidly expanding. 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 AGK), MEGDEL syndrome (or SERAC defect, SERAC1), Barth syndrome (or TAZ defect, TAZ), congenital muscular dystrophy due to CHKB deficiency (CHKB). Boucher-Neuhäuser/Gordon Holmes syndrome (PNPLA6), PHARC syndrome (ABHD12), hereditary spastic paraplegia type 28, 54 and 56 (HSP28, DDHD1; HSP54, DDHD2; HSP56, CYP2U1), Lenz Majewski syndrome (PTDSS1), spondylometaphyseal dysplasia with cone-rod dystrophy (PCYT1A), atypical haemolytic-uremic syndrome due to DGKE deficiency (DGKE).
authors.affiliation: Nijmegen Centre for Mitochondrial Disorders (NCMD) at the Amalia Children's Hospital, Radboudumc, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands, Saskia.Wortmann-Hagemann@radboudumc.nl.
authors.forename: Saskia B
authors.initials: SB
authors.lastname: Wortmann
authors.forename: Marc
authors.initials: M
authors.lastname: Espeel
authors.forename: Ligia
authors.initials: L
authors.lastname: Almeida
authors.forename: Annette
authors.initials: A
authors.lastname: Reimer
authors.forename: Dennis
authors.initials: D
authors.lastname: Bosboom
authors.forename: Frank
authors.initials: F
authors.lastname: Roels
authors.forename: Arjan P M
authors.initials: AP
authors.lastname: de Brouwer
authors.forename: Ron A
authors.initials: RA
authors.lastname: Wevers
mesh_terms: D000853:Anophthalmos / Q000235:genetics; D056889:Barth Syndrome / Q000235:genetics; D009202:Cardiomyopathies / Q000235:genetics*; D002386:Cataract / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000235:genetics; D005192:Family Health; D007987:Gonadotropin-Releasing Hormone / Q000172:deficiency / Q000235:genetics; D006463:Hemolytic-Uremic Syndrome / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D008850:Microphthalmos / Q000235:genetics; D009136:Muscular Dystrophies / Q000235:genetics; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics; D010743:Phospholipids / Q000096:biosynthesis* / Q000378:metabolism*; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics
chemical_list: D010743:Phospholipids; D007987:Gonadotropin-Releasing Hormone