Matsuishi T, Urabe F, Komori H, Yamashita Y, Naito E, Kuroda Y, Horikawa M, Ohtaki E
Department of Pediatrics and Child Health, Kurume University School of Medicine, Japan.
Brain Dev. 1992 Jan;14(1):68-70. doi: 10.1016/s0387-7604(12)80283-x.
We investigated both blood and cerebrospinal fluid (CSF) lactate and pyruvate levels in seven girls with the Rett syndrome (RS) and evaluated the relationship between CSF lactate and pyruvate levels and the clinical manifestations, particularly seizures, anticonvulsant medication, and breathing dysfunction including breath holding, apnea and hyperventilation. Elevated lactate and pyruvate levels in CSF with normal serum lactate were found in two RS patients. Elevated CSF lactate correlated significantly with the clinical occurrence of hyperventilation (P0 = 0.048, Fisher exact probability). We measured native and dichloroacetate (DCA)-activated pyruvate dehydrogenase (PDH) complex activities in two patients (#1 and 2) using cultured lymphoblastoid cell lines which were transformed by EB virus and the results were normal. We also analyzed CSF citric acid intermediates from 7 RS patients including citric acid, cis-aconitate, alpha-ketoglutarate, succinate, fumarate, malate and oxaloacetate. These concentrations were not significantly different from those control patients (N = 21). An elevated lactate level may be a clue to clarify the etiology of RS.
我们研究了7名患有雷特综合征（RS）的女孩的血液和脑脊液（CSF）中的乳酸和丙酮酸水平，并评估了脑脊液乳酸和丙酮酸水平与临床表现之间的关系，特别是癫痫发作、抗惊厥药物治疗以及包括屏气、呼吸暂停和换气过度在内的呼吸功能障碍。在2例RS患者中发现脑脊液中乳酸和丙酮酸水平升高而血清乳酸水平正常。脑脊液乳酸升高与换气过度的临床发生显著相关（P0 = 0.048，Fisher精确概率）。我们使用经EB病毒转化的培养淋巴母细胞系测量了2例患者（#1和2）的天然和二氯乙酸（DCA）激活的丙酮酸脱氢酶（PDH）复合物活性，结果正常。我们还分析了7例RS患者脑脊液中的柠檬酸中间产物，包括柠檬酸、顺乌头酸、α-酮戊二酸、琥珀酸、富马酸、苹果酸和草酰乙酸。这些浓度与对照组患者（N = 21）相比无显著差异。乳酸水平升高可能是阐明RS病因的一个线索。
