PDF(Pubmed)
Abstract：
Guanidinoacetate N-methyltransferase (GAMT) deficiency is a rare autosomal recessive disorder characterized by a decrease in creatine synthesis, resulting in cerebral creatine deficiency syndrome (CCDS). GAMT deficiency is caused by mutations in the GAMT gene located on chromosome 19, which impairs the conversion of guanidinoacetic acid (GAA) to creatine. The resulting accumulation of the toxic metabolite GAA and the lack of creatine lead to various symptoms, including global developmental delays, behavioral issues, and epilepsy. The gold standard for diagnosis of GAMT deficiency is genetic testing. Treatment options for GAMT deficiency include creatine supplementation, ornithine supplementation, arginine restriction, and sodium benzoate supplementation. These treatment options have been shown to improve movement disorders and epileptic symptoms, but their impact on intellectual and speech development is limited. Early intervention has shown promising results in normalizing neurological development in a minor subgroup of patients. Therefore, there is a growing need for newborn screening techniques to detect GAMT deficiency early and prevent permanent neurological delays. Here we report a case of GAMT deficiency with emphasis on imaging presentation. Our case showed reduced brain parenchyma creatine stores on MR Spectroscopy, which may provide an avenue to aid in early diagnosis.
摘要：
胍基乙酸N-甲基转移酶（GAMT）缺乏症是一种罕见的常染色体隐性遗传疾病，其特征是肌酸合成减少。导致脑型肌酸缺乏综合征（CCDS）。GAMT缺陷是由位于19号染色体上的GAMT基因突变引起的，该突变会损害胍基乙酸（GAA）向肌酸的转化。由此产生的有毒代谢物GAA的积累和肌酸的缺乏导致各种症状，包括全球发展迟缓，行为问题,和癫痫。诊断GAMT缺乏症的黄金标准是基因检测。GAMT缺乏症的治疗选择包括补充肌酸，补充鸟氨酸,精氨酸限制，和苯甲酸钠的补充。这些治疗方案已被证明可以改善运动障碍和癫痫症状，但是它们对智力和语言发展的影响是有限的。早期干预在使少数患者的神经发育正常化方面显示出有希望的结果。因此,越来越需要新生儿筛查技术来早期检测GAMT缺乏症并预防永久性神经延迟.在这里，我们报告了一例GAMT缺乏症，重点是影像学表现。我们的病例在MR波谱上显示脑实质肌酸储存减少，这可能为早期诊断提供帮助。
