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Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids
Author(s) -
Wortmann Saskia B.,
Espeel Marc,
Almeida Ligia,
Reimer Annette,
Bosboom Dennis,
Roels Frank,
Brouwer Arjan P.M.,
Wevers Ron A.
Publication year - 2015
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-014-9759-7
Subject(s) - hereditary spastic paraplegia , dystrophy , biology , zebrafish , lissencephaly , biosynthesis , genetics , biochemistry , phenotype , gene
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 ).