常见致病性GAMT突变(c.59G > C)在葡萄牙。

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他阿尔梅达LS, Vilarinho L, PS,罗森博格呃,Martinez-Munoz C, C手跟前,所罗门GS

常见致病性GAMT突变(c.59G > C)在葡萄牙。

91年5月,摩尔麝猫金属底座,2007 (1):1 - 6。Epub 2007 3月1。

PubMed ID

17336114 (在PubMed

]

文摘

Guanidinoacetate甲基转移酶(GAMT)缺乏症(MIM 601240),肌酸生物合成的一个常染色体隐性障碍,提出了与精神发育迟滞、锥体外系症状,出自闭症行为和癫痫。其他特点是脑肌酸缺乏症、水平的提高guanidinoacetate体液和GAMT基因的突变。肌酸补充部分恢复脑肌酸含量。在世界范围内,29名患者被识别和15个不同GAMT基因突变已报告。十个病人29的葡萄牙的起源。可能,奠基者效应和高承运人运价在葡萄牙存在,因为在17日的20日葡萄牙c.59G > C等位基因;p。Trp20Ser突变被发现。我们调查了承运人运价c.59G > C;p。Trp20Ser mutation in different regions of Portugal and confirmed the pathogenic nature of this missense mutation by transient transfections. Anonymous bloodspots (1002) were screened for the presence of the c.59G>C; p.Trp20Ser mutation by SNaPshot (Single Nucleotide Polymorphism Multiplex Kit). Eight carriers of c.59G>C; p.Trp20Ser were detected of which four are derived from the Archipelagos. This suggests that the carrier rate of the c.59G>C; p.Trp20Ser mutation is relatively high in these islands, as well as in other parts of Portugal. It also implies that newborn screening in these regions is warranted for this treatable disorder.

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药物靶点

药物	目标	类	生物	药理作用	行动
肌酸	Guanidinoacetate N-methyltransferase	蛋白质	人类	是的	产品的	细节
磷酸肌酸	Guanidinoacetate N-methyltransferase	蛋白质	人类	是的	产品的	细节