脑肌酸缺乏：胍基乙酸甲基转移酶缺乏症（补充肌酸后病情改善）
Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation).
作者信息
Leuzzi V, Bianchi M C, Tosetti M, Carducci C, Cerquiglini C A, Cioni G, Antonozzi I
机构信息
Dipartimento di Scienze Neurologiche e Psichiatriche dell'Età Evolutiva, Università La Sapienza, Rome, Italy.
出版信息
Neurology. 2000 Nov 14;55(9):1407-9. doi: 10.1212/wnl.55.9.1407.
The authors describe an Italian child with guanidinoacetate methyltransferase deficiency, neurologic regression, movement disorders, and epilepsy during the first year of life. Brain MRI showed pallidal and periaqueductal alterations. In vivo 1H-MRS showed brain creatine depletion. The assessment of guanidinoacetic acid concentration in biologic fluids confirmed the diagnosis. Clinical, biochemical, and neuroradiologic improvement followed creatine supplementation.
作者描述了一名患有胍基乙酸甲基转移酶缺乏症的意大利儿童，该患儿在出生后第一年出现神经功能衰退、运动障碍和癫痫。脑部磁共振成像（MRI）显示苍白球和导水管周围有病变。活体氢质子磁共振波谱（1H-MRS）显示脑内肌酸消耗。对生物体液中胍基乙酸浓度的评估证实了诊断。补充肌酸后，临床、生化和神经放射学表现均有改善。
Zotero 插件