caa a22 4500 475787242 CHVBK 20180406123702.0 cr unu---uuuuu 170329e20001001xx s 000 0 eng 10.1007/s004310000601 doi (NATIONALLICENCE)springer-10.1007/s004310000601 Mayatepek Ertan Department of General Paediatrics, University Children's Hospital, Im Neuenheimer Feld 150, 69120 Heidelberg, Germany e-mail: ertan_mayatepek@med.uni-heidelberg.de Tel.: +49-6221-562311; Fax: +49-6221-563651, DE aut Leukotriene C4 synthesis deficiency: a member of a probably underdiagnosed new group of neurometabolic diseases [Elektronische Daten] [Ertan Mayatepek] Leukotrienes (LTs) are a group of biologically highly active compounds which mainly include the cysteinyl leukotrienes LTC4, LTD4, LTE4 and LTB4. Biosynthesis is limited to a small number of different cells including brain tissue. Besides their well known function in the mediation of inflammation and host defence, cysteinyl LTs have neuromodulatory functions in the brain. Here we describe the recently discovered first two cases with a defect in the synthesis of LTs, LTC4 synthesis deficiency which is characterised by severe muscular hypotonia, psychomotor retardation, failure to thrive, microcephaly, and by the total absence of cysteinyl LTs in body fluids and deficient synthesis of the primary cysteinyl LT, LTC4, in blood cells. We describe the clinical and biochemical findings as well as the pathophysiological aspects of this condition and of further defects suggested in the synthetic pathway of LTs. Moreover, certain disease states which are known to be associated with secondary disturbances of LT degradation are also discussed. Conclusion Leukotriene C4 synthesis deficiency represents a member of a newly recognised group of neurometabolic disorders which are probably underdiagnosed. Analysis of leukotrienes is recommended in all patients with neurological symptoms who have no apparently obvious metabolic cause. Springer-Verlag Berlin Heidelberg, 2000 Key wordsγ-Glutamyl transferase nationallicence Leukotriene nationallicence Leukotriene C4 synthesis deficiency nationallicence Membrane associated proteins in eicosanoid and glutathione metabolism nationallicence AbbreviationsLT leukotriene nationallicence MAPEG membrane associated proteins in eicosanoid and glutathione metabolism nationallicence https://doi.org/10.1007/s004310000601 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s004310000601 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- Mayatepek Ertan Department of General Paediatrics, University Children's Hospital, Im Neuenheimer Feld 150, 69120 Heidelberg, Germany e-mail: ertan_mayatepek@med.uni-heidelberg.de Tel.: +49-6221-562311; Fax: +49-6221-563651, DE aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer