An update on serine deficiency disorders
An update on serine deficiency disorders
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DOI：
10.1007/s10545-013-9592-4
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发表时间：
2013-07-01
影响因子：
4.2
通讯作者：
de Koning, T. J.
中科院分区：
文献类型：
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作者：
van der Crabben, S. N.;Verhoeven-Duif, N. M.;de Koning, T. J.
丝氨酸缺乏症是由L-丝氨酸生物合成途径的三种合成酶之一的缺陷引起的。丝氨酸缺乏症导致神经表型精神运动迟缓、小头畸形和新生儿和儿童的癫痫发作，或成人患者的进行性多发性神经病。引起丝氨酸缺乏的基因缺陷有三种，其中3-磷酸甘油脱氢酶(3-PGDH)缺陷是最常见的缺陷，它影响丝氨酸途径的第一步。L丝氨酸生物合成、磷酸丝氨酸转氨酶(PSAT)缺乏症和磷酸丝氨酸磷酸酶(PSP)缺乏症仅在少数患者中报道。这三种疾病的生化特征都是脑脊液和血浆中丝氨酸浓度较低。及时识别受影响的患者很重要，因为丝氨酸缺乏障碍是神经代谢障碍的可治疗原因。使用脑脊液和血浆中与年龄相关的丝氨酸参考值可以极大地帮助建立正确的丝氨酸缺乏症诊断，特别是在新生儿和幼儿中。
Serine deficiency disorders are caused by a defect in one of the three synthesising enzymes of the L-serine biosynthesis pathway. Serine deficiency disorders give rise to a neurological phenotype with psychomotor retardation, microcephaly and seizures in newborns and children or progressive polyneuropathy in adult patients. There are three defects that cause serine deficiency of which 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, the defect affecting the first step in the pathway, has been reported most frequently. The other two disorders in L-serine biosynthesis phosphoserine aminotransferase (PSAT) deficiency and phosphoserine phosphatase (PSP) deficiency have been reported only in a limited number of patients. The biochemical hallmarks of all three disorders are low concentrations of serine in cerebrospinal fluid and plasma. Prompt recognition of affected patients is important, since serine deficiency disorders are treatable causes of neurometabolic disorders. The use of age-related reference values for serine in CSF and plasma can be of great help in establishing a correct diagnosis of serine deficiency, in particular in newborns and young children.