Serine-deficiency syndromes
Serine-deficiency syndromes
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DOI：
10.1097/00019052-200404000-00019
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发表时间：
2004-04-01
影响因子：
4.8
通讯作者：
Klomp, LWJ
中科院分区：
文献类型：
--
作者：
de Koning, TJ;Klomp, LWJ
综述目的丝氨酸缺乏症包括一组新的神经代谢疾病，是由氨基酸 L-丝氨酸生物合成缺陷引起的。与大多数神经代谢疾病相比，丝氨酸缺乏症是可以治疗的。此外，在患者中观察到的严重神经系统症状强调了丝氨酸生物合成途径在脑组织中的重要作用。概述了迄今为止报道的丝氨酸缺乏症患者、生化结果和氨基酸治疗的结果。最近发现 L-丝氨酸生物合成在多种细胞反应中发挥着重要作用，特别是在大脑中，因为 L-丝氨酸是重要代谢物的前体，例如核苷酸、磷脂以及神经递质甘氨酸和 D-丝氨酸。与 N-甲基-D-天冬氨酸受体激活相关的丝氨酸-甘氨酸代谢紊乱也被认为在精神疾病中发挥着作用。提出了有关 L-丝氨酸衍生磷脂和神经递质这些作用的最新发现。 总结 先天性小头畸形、癫痫发作和严重精神运动迟缓是丝氨酸缺乏的症状，可以通过补充 L-丝氨酸（有时与甘氨酸联合使用）来治疗。丝氨酸缺乏症中观察到的症状证实了 L-丝氨酸和 L-丝氨酸衍生代谢物在中枢神经系统中发挥着重要作用。
Purpose of review Serine-deficiency disorders comprise a new group of neurometabolic diseases and are caused by defects in the biosynthesis of the amino acid L-serine. In contrast to most neurometabolic disorders, serine-deficiency disorders are potentially treatable. Furthermore, the severe neurological symptoms observed in patients underscore the important roles of the serine biosynthetic pathway in brain tissue. An overview of the patients with serine-deficiency disorders reported to date, the biochemical findings and the results of treatment with amino acids is presented.Recent findings L-Serine biosynthesis plays an important role in multiple cellular reactions, particularly in the brain, as L-serine is a precursor of important metabolites such as nucleotides, phospholipids and the neurotransmitters glycine and D-serine. Disturbances of serine-glycine metabolism in relation to N-methyl-D-aspartate-receptor activation are supposed to play a role in psychiatric disease as well. Recent findings concerning these roles of L-serine-derived phospholipids and neurotransmitters are presented.Summary Congenital microcephaly, seizures and severe psychomotor retardation are symptoms of serine deficiency and can be treated with supplementation of L-serine, sometimes combined with glycine. The symptoms observed in serine deficiency confirm that L-serine and L-serine-derived metabolites play important roles in the central nervous system.