de Koning T J, Poll-The B T, Jaeken J
Department of Metabolic Diseases, University Children's Hospital Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.
Neuropediatrics. 1999 Feb;30(1):1-4. doi: 10.1055/s-2007-973447.
Serine deficiency disorders comprise a new group of inborn errors of serine metabolism. Patients affected with these disorders present with major neurological symptoms including congenital microcephaly, seizures, psychomotor retardation or polyneuropathy. The diagnosis of serine deficiency is based on the detection of low concentrations of the amino acids serine and glycine in fasted plasma and cerebrospinal fluid (CSF). Amino acid analysis of cerebrospinal fluid is preferable over plasma analysis, because the deficiencies are more pronounced in CSF. Because of the interference of amino acids absorbed from the diet, diagnostic procedures have to be performed in the fasted state. Although the disorders are probably rare and not many cases have been reported, recognition of serine deficiency is important, given the fact that the disorders are potentially treatable. The clinical symptoms respond well to amino acid replacement therapy. So far, three serine deficiency disorders have been reported; 3-phosphoglycerate dehydrogenase deficiency, 3-phosphoserine phosphatase deficiency and a still unexplained serine deficiency disorder. In this paper, we will discuss the various serine deficiency disorders, their biochemical abnormalities and the results of amino acid replacement therapy.
丝氨酸缺乏症是一组新的先天性丝氨酸代谢紊乱疾病。受这些疾病影响的患者会出现主要的神经症状，包括先天性小头畸形、癫痫发作、精神运动发育迟缓或多发性神经病。丝氨酸缺乏症的诊断基于空腹血浆和脑脊液（CSF）中氨基酸丝氨酸和甘氨酸浓度降低的检测。脑脊液的氨基酸分析优于血浆分析，因为脑脊液中的缺乏更为明显。由于饮食中吸收的氨基酸的干扰，诊断程序必须在空腹状态下进行。尽管这些疾病可能很少见且报道的病例不多，但鉴于这些疾病具有潜在可治疗性，认识丝氨酸缺乏症很重要。临床症状对氨基酸替代疗法反应良好。到目前为止，已报道了三种丝氨酸缺乏症；3-磷酸甘油酸脱氢酶缺乏症、3-磷酸丝氨酸磷酸酶缺乏症和一种仍无法解释的丝氨酸缺乏症。在本文中，我们将讨论各种丝氨酸缺乏症、它们的生化异常以及氨基酸替代疗法的结果。
