[1H] Magnetic Resonance Spectroscopy of Urine: Diagnosis of a Guanidinoacetate Methyl Transferase Deficiency Case
[1H] Magnetic Resonance Spectroscopy of Urine: Diagnosis of a Guanidinoacetate Methyl Transferase Deficiency Case
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DOI：
10.1177/0883073809336120
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发表时间：
2010-01-01
影响因子：
1.9
通讯作者：
Hayek, Joseph
中科院分区：
文献类型：
--
作者：
Tassini, Maria;Zannolli, Raffaella;Hayek, Joseph
首次使用尿[H-1]磁共振波谱在1500例诊断为不明原因中枢神经系统损害的儿科患者的数据库样本中检测到1例胍基乙酸甲基转移酶。一名9岁儿童的尿[H-1]磁共振波谱，患有严重癫痫和无明显原因的非进行性智力和运动发育迟缓，显示可能的胍基乙酸增加。通过向尿样中加入纯物质并测量[H-1]-[H-1]相关光谱，检查胍基乙酸的确定性归属。通过液相色谱-质谱、脑[H-1]磁共振波谱和胍基乙酸甲基转移酶基因突变分析进一步证实了胍基乙酸甲基转移酶缺乏症的诊断。立即开始替代治疗，1年后，孩子癫痫发作消失。我们的结论是，对于这种情况下，尿[H-1]磁共振波谱筛查能够诊断胍乙酸甲基转移酶缺乏症。
For the first time, the use or urine [H-1] magnetic resonance spectroscopy has allowed the detection of 1 case of guanidinoacetate methyl transferase in a database sample of 1500 pediatric patients with a diagnosis of central nervous system impairment of unknown origin. The urine [H-1] magnetic resonance spectroscopy of a 9-year-old child, having severe epilepsy and nonprogressive mental and motor retardation with no apparent cause, revealed a possible guanidinoacetic acid increase. The definitive assignment of guanidinoacetic acid was checked by addition of pure substance to the urine sample and by measuring [H-1]-[H-1] correlation spectroscopy. Diagnosis of guanidinoacetate methyl transferase deficiency was further confirmed by liquid chromatography-mass spectrometry, brain [H-1] magnetic resonance spectroscopy, and Mutational analysis of the guanidinoacetate methyl transferase gene. The replacement therapy was promptly started and, after 1 year, the child was seizure free. We conclude that for this case, Urine [H-1] magnetic resonance spectroscopy screening was able to diagnose guanidinoacetate methyl transferase deficiency.