% 0期刊文章% Gozde Erdemir %尼尔·弗里德曼% %苏米特•帕里克以T GTPBP3突变导致复发性乳酸酸中毒与呕吐和头痛(P1.298) % D J神经病学2018% % P P1.298 % V 90% N 15补充% X目的:提出与GTPBP3相关基因突变导致复发性乳酸酸中毒的症状呕吐和头痛。首页背景:GTPBP3基因编码线粒体GTP-binding蛋白质3。GTPBP3基因的突变与严重的线粒体平移缺陷产生的有缺陷的线粒体能源生产。有11个病人在文学与氧化磷酸化不足相结合,确定纯合子或复合GTPBP3的杂合突变。大多数患者在儿童早期与肥厚性心肌病或变量神经症状,包括张力减退、发育迟缓、喂养困难、癫痫、乳酸酸中毒或视觉障碍。设计/方法:病例报告和文献回顾。结果:在这里,我们报告一位20岁的白人男性面对长期运动不耐受次要先前诊断肥厚性心肌病;反复发作的恶心、呕吐和额头痛。肌肉活检显示装配缺陷在复杂的一个二级复合杂合的致病性突变GTPBP3基因。他的恶心、呕吐和头痛总是发现与恶化的基线乳酸酸中毒/乳酸酸尿。他反复发作的恶心、呕吐和头痛与静脉输液治疗。作为他的乳酸酸中毒与水化改进,解决了他的症状。 An extensive evaluation for secondary worsening of acidosis including underlying cardiac, endocrinologic and renal disease were excluded.Conclusions: Although lactic acidosis is a known biomarker of mitochondrial diseases, fluctuations in its levels do not typically correlate so clearly with a patient’s symptoms as to allow for the measurement to guide treatment. This case illustrates an unusual presentation of a rare mitochondrial disease. In addition, in this patient, worsening of lactic acid correlates with symptomatic worsening.Disclosure: Dr. Erdemir has nothing to disclose. Dr. Friedman has nothing to disclose. Dr. Parikh has nothing to disclose. %U

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