PT -期刊文章盟塞雷娜·e·b·刘盟-克里斯托Sidiropoulos TI - 2例硫胺素Pyrophosphokinase突变确定在美国(P2.030) DP - 2017年4月18日TA -神经病学PG - P2.030 VI - 88 IP - 16补充4099 - //www.ez-admanager.com/content/88/16_Suppl首页ement/P2.030.short 4100 - //www.ez-admanager.com/content/88/16_Supplement/P2.030.full所以Neurology2017 4月18日;88 AB -目的:报告2例遗传性pyrophokinase硫胺素缺乏症在美国。背景:硫胺素或维生素B1是代数余子式数形式的硫胺素焦磷酸脱氢酶酶反应。它是由硫胺素pyrosphokinase激活。缺乏从酗酒的影响对中枢神经系统已经证据确凿的文学。然而对其遗传基因突变硫胺素代谢途径和意义。目前,只有2出版物记录全球pyrophosphokinase硫胺素缺乏症的7例。病人呈现正常的发展在儿童早期症状出现之前。在最初的开始,他们现在与正常大脑的磁共振成像,运动失调,增加血清乳酸水平。在几年之内,进步运动功能受损严重的肌张力障碍,演讲,和MRI异常发现。 Earlier symptom onset appears to be associated with more severe outcome.Bunka et al in 2014 documented 2 cases from Germany, a brother and a sister of a consanguineous family of Iraqi Chaldean descent with homozygous mutations c.119t>C p.Leu40Pro.We here present a 23 year-old male from a consanguineous family of Iraqi Chaldean descent in the United States with severe early onset generalized dystonia and a 26 year old less affected sister.Design/Methods: Case study using whole exome sequencing in both parents and the two affected siblings.Serum thiamine levels were also assessed.Results: Parents were both heterozygous for the same mutation reported before by Bunka et al. The two affected siblings were both homozygous. Thiamine levels were low in the more severely affected brother.Conclusions: Mutations in the thiamine pyrophosphokinase gene can cause variable degrees of dystonia, even in the absence of severe intellectual delay. Thiamine replacement may offer some benefit.Disclosure: Dr. Liu has nothing to disclose. Dr. Sidiropoulos has nothing to disclose.

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