Mayatepek E
Department of General Paediatrics, University Children's Hospital, Heidelberg, Germany.
Eur J Pediatr. 2000 Nov;159(11):811-8. doi: 10.1007/s004310000601.
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.
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.
白三烯（LTs）是一组生物活性极高的化合物，主要包括半胱氨酰白三烯LTC4、LTD4、LTE4和LTB4。其生物合成仅限于少数不同细胞，包括脑组织。除了在炎症介导和宿主防御中的众所周知的功能外，半胱氨酰白三烯在大脑中还具有神经调节功能。在此，我们描述了最近发现的首例两例白三烯合成缺陷病例，即LTC4合成缺陷，其特征为严重的肌张力减退、精神运动发育迟缓、生长发育不良、小头畸形，且体液中完全不存在半胱氨酰白三烯，血细胞中初级半胱氨酰白三烯LTC4的合成也存在缺陷。我们描述了这种疾病的临床和生化发现以及病理生理学方面，以及白三烯合成途径中提示的进一步缺陷。此外，还讨论了某些已知与白三烯降解继发性紊乱相关的疾病状态。
白三烯C4合成缺陷代表了一组新认识的神经代谢紊乱疾病，可能未得到充分诊断。建议对所有无明显明显代谢原因的神经系统症状患者进行白三烯分析。
