Sun Weihua, Wang Yi, Zu Zhen, Jiang Yi, Lu Wei, Wang Huijun, Wu Bingbing, Zhang Ping, Peng Xiaomin, Zhou Hao
Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
Department of Neurology, Children's Hospital of Fudan University, Research Institute of Brain Science, Shanghai, China.
Clin Chim Acta. 2017 Jul;470:42-45. doi: 10.1016/j.cca.2017.04.013. Epub 2017 Apr 22.
Guanidinoacetate methyltransferase (GAMT) deficiency is a rare inherited disorder characterized by creatine (Cr) depletion and guanidinoacetate (GAA) accumulation in body fluids. We report the first identified Chinese case, diagnosed in a 4-year-old girl with onset of global developmental. Low Cr and high GAA levels were detected in her serum and urine, and low Cr level in her brain. Compound heterozygous variants in GAMT gene were found, including a previously reported variant at c.491dupG which was inherited from her mother and a novel variant at c.564G>T, which was inherited from her father. The Cr and GAA levels returned back to normal after 3 months of treatment. After one year of treatment, the patient stopped taking antiepileptic drugs and her electroencephalogram (EEG) was also back to normal. The girl was followed up for five years and exhibited good results beyond our expectation. The results have shown that protein restriction with high-dose ornithine and creatine supplements have strong therapeutic potential for our patient.
胍基乙酸甲基转移酶（GAMT）缺乏症是一种罕见的遗传性疾病，其特征是体液中肌酸（Cr）耗竭和胍基乙酸（GAA）蓄积。我们报告首例确诊的中国病例，为一名4岁女童，出现全面发育迟缓。在她的血清和尿液中检测到低Cr和高GAA水平，脑部Cr水平也较低。发现GAMT基因存在复合杂合变异，包括从她母亲遗传而来的先前报道的c.491dupG变异，以及从她父亲遗传而来的新变异c.564G>T。治疗3个月后，Cr和GAA水平恢复正常。治疗一年后，患者停止服用抗癫痫药物，其脑电图（EEG）也恢复正常。该女童接受了五年随访，结果超出预期。结果表明，高蛋白限制联合高剂量鸟氨酸和肌酸补充剂对我们的患者具有强大的治疗潜力。
