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Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids

2014; Springer Science+Business Media; Volume: 38; Issue: 1 Linguagem: Inglês

10.1007/s10545-014-9759-7

1573-2665

Saskia B. Wortmann, Marc Espeel, Lígia S. Almeida, Annette Reimer, Dennis Bosboom, Frank Roels, Arjan P.M. de Brouwer, Ron A. Wevers,

Erythrocyte Function and Pathophysiology

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 ).