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Wortmann S.B.,Nijmegen Center For Mitochondrial Disorders Ncmd At The Amalia Childrens Hospital | Espeel M.,Ghent University | Almeida L.,National Health Research Institute | Reimer A.,Nijmegen Center For Mitochondrial Disorders Ncmd At The Amalia Childrens Hospital | And 4 more authors.
Journal of Inherited Metabolic Disease | Year: 2014

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). © 2014, SSIEM. Source


Franik S.,Nijmegen Center For Mitochondrial Disorders Ncmd At The Amalia Childrens Hospital | Huidekoper H.H.,University of Amsterdam | Visser G.,Wilhelmina Childrens Hospital | de Vries M.,Nijmegen Center For Mitochondrial Disorders Ncmd At The Amalia Childrens Hospital | And 8 more authors.
Journal of Inherited Metabolic Disease | Year: 2015

Despite major advances in understanding the pathophysiology of mitochondrial diseases, clinical management of these conditions remains largely supportive, and no effective treatment is available. We therefore assumed that the burden of disease combined with the lack of adequate treatment leaves open a big market for complementary and alternative medicine use. The objective of this study was to evaluate the use and perceived effectiveness of complementary and alternative medicine in children and adults with genetically proven mitochondrial disease. The reported use was surprisingly high, with 88 % of children and 91 % of adults having used some kind of complementary and alternative medicine in the last 2 years. Also, the mean cost of these treatments was impressive, being €489/year for children and €359/year for adult patients. Over-the-counter remedies (e.g., food supplements, homeopathy) and self-help techniques (e.g., Reiki, yoga) were the most frequently used complementary and alternative therapies in our cohort: 54 % of children and 60 % of adults reported the various complementary and alternative medicine therapies to be effective. Given the fact that currently no effective treatment exists, further research toward the different therapies is needed, as our study clearly demonstrates that such therapies are highly sought after by affected patients. © 2014, SSIEM. Source

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