RS-3-chloro-2-oxy-propyltrimethylammonium-chloride 1, an important inter- mediate of carnitine and acetylcholine, has been synthesized and resolved by using R,R-tartric acid. Di-(S-3-chloro-2-oxy-propyltrimethylammoni...RS-3-chloro-2-oxy-propyltrimethylammonium-chloride 1, an important inter- mediate of carnitine and acetylcholine, has been synthesized and resolved by using R,R-tartric acid. Di-(S-3-chloro-2-oxy-propyltrimethylammonium)-R,R-tartrate 2, with optical purity of 81.76%, has been obtained. Compound 2 was characterized by IR spectroscopy, MS, NMR and X-ray diffrac- tion, and it crystallizes in orthorhombic, space group P212121, absolute structure parameter 0.56(8), with cell parameters a = 8.323(2), b = 10.203(2), c = 26.178(5) ? C16H34Cl2N2O8, Mr = 453.272, V = 2223.0(8) ?, Z = 4, Dc = 1.354 g/cm3, m = 0.335 mm-1, F(000) = 968, R = 0.0534 and wR = 0.1274 for 4376 observed reflections (I > 2s(I)). The lattice is composed of two S-3-chloro- 2-oxy-propyltrimethylammonium cations and one R,R-tartrate dianion which are arranged in separate stacks linked via hydrogen bonds.展开更多
文摘目的报告1例经生化和致病基因分析而确诊的成人晚发型戊二酸尿症I型(GA-1)患者,探讨其临床、影像学特点,分析其脑梗死与戊二酸尿症I型之间的相关性,并进行治疗后的随访。方法 1例51岁脑梗死患者,报告其临床经过、生化特点和头部核磁共振改变。血液和尿液生化检查包括气相色谱/质谱分析法检测尿有机酸、串联质谱联用法检测血液氨基酸/酯酰肉碱谱。提取患者及其父母的外周血DNA,进行戊二酰辅酶A脱氢酶编码基因(glutaryl CoA dehydrogenase,GCDH)的突变分析。并观察患者在治疗前后临床、生化、尿有机酸及血液酯酰肉碱谱分析等方面的变化。结果该患者以脑梗死起病,头部MR I示右侧大脑半球多发脑梗死,双外侧裂明显增宽,双侧颞叶前部蛛网膜囊肿,轻度皮质萎缩。尿有机酸分析检出大量戊二酸和3-羟基戊二酸,GCDH基因检测发现为复合杂合性突变(G178E和R402Q),确诊为戊二酸尿症I型。同时发现患者血液中同型半胱氨酸水平增高、游离肉碱和多种酯酰肉碱水平显著降低。治疗后血同型半胱氨酸水平接近正常,尿有机酸分析戊二酸浓度较前显著增高,血液酯酰肉碱谱分析结果较治疗前明显好转。结论尽管戊二酸尿症I型多于婴幼儿期发病,但也存在非常罕见的成人晚发型。戊二酸尿症I型可能是造成脑梗死的因素之一。在成人卒中患者中,如果没有发现其他卒中相关危险因素,必要时应进行代谢障碍筛查以除外代谢性疾病。
文摘RS-3-chloro-2-oxy-propyltrimethylammonium-chloride 1, an important inter- mediate of carnitine and acetylcholine, has been synthesized and resolved by using R,R-tartric acid. Di-(S-3-chloro-2-oxy-propyltrimethylammonium)-R,R-tartrate 2, with optical purity of 81.76%, has been obtained. Compound 2 was characterized by IR spectroscopy, MS, NMR and X-ray diffrac- tion, and it crystallizes in orthorhombic, space group P212121, absolute structure parameter 0.56(8), with cell parameters a = 8.323(2), b = 10.203(2), c = 26.178(5) ? C16H34Cl2N2O8, Mr = 453.272, V = 2223.0(8) ?, Z = 4, Dc = 1.354 g/cm3, m = 0.335 mm-1, F(000) = 968, R = 0.0534 and wR = 0.1274 for 4376 observed reflections (I > 2s(I)). The lattice is composed of two S-3-chloro- 2-oxy-propyltrimethylammonium cations and one R,R-tartrate dianion which are arranged in separate stacks linked via hydrogen bonds.
