Treatment with amino acids in serine deficiency disorders
Treatment with amino acids in serine deficiency disorders
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DOI：
10.1007/s10545-006-0269-0
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发表时间：
2006-04-01
影响因子：
4.2
通讯作者：
de Koning, TJ
中科院分区：
文献类型：
--
作者：
de Koning, TJ
丝氨酸缺乏症是氨基酸 L-丝氨酸生物合成的罕见缺陷。目前已报道两种疾病：3-磷酸甘油酸脱氢酶缺乏症和3-磷酸丝氨酸磷酸酶缺乏症。这些酶缺陷会导致严重的神经系统症状，例如先天性小头畸形和严重的精神运动迟缓，此外，3-磷酸甘油酸脱氢酶缺乏的患者还会出现顽固性癫痫发作。这些症状对 L-丝氨酸（有时与甘氨酸联合治疗）的治疗有不同程度的反应。本文综述了目前用L-丝氨酸和甘氨酸治疗丝氨酸缺乏症的实践。
Serine deficiency disorders are rare defects in the biosynthesis of the amino acid L-serine. At present two disorders have been reported: 3-phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency. These enzyme defects lead to severe neurological symptoms such as congenital microcephaly and severe psychomotor retardation and in addition in patients with 3-phosphoglycerate dehydrogenase deficiency to intractable seizures. These symptoms respond to a variable degree to treatment with L-serine, sometimes combined with glycine. In this paper the current practice of amino acid treatment with L-serine and glycine in serine deficiency is reviewed.