Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism
Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism
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DOI：
10.1016/s0140-6736(96)04116-5
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发表时间：
1996-09-21
期刊：
影响因子：
168.9
通讯作者：
Frahm, J
中科院分区：
文献类型：
--
作者：
Stockler, S;Hanefeld, F;Frahm, J
背景肌酸/肌酸磷酸盐系统是肌肉和大脑中磷酸盐结合能的储存和传递所必需的。在婴儿中，这一代谢途径的无效或失败会损害运动控制和mentation.Methods的发展，我们研究和治疗了一个婴儿与锥体外系体征谁是显示-通过测定尿肌酐和分析大脑代谢物与使用核磁共振光谱-有耗尽的身体和大脑肌酸，由于先天性缺乏胍乙酸甲基转移酶（GAMT）。结果长期口服肌酸一水合物（4-8 g/天）导致显著的临床改善，苍白球中磁共振（MRI）信号异常消失，以及脑电图（EEG）上缓慢背景活动的正常化。在25个月的治疗期间，大脑和全身肌酸浓度变得normal.Interpretation口服肌酸替代已被证明是有效的，在一个孩子的先天性错误GAMT。它也可能是有效的治疗其他疾病的肌酸合成。
Background The creatine/creatine-phosphate system is essential for the storage and transmission of phosphate-bound energy in muscle and brain. In infants, inefficiency or failure of this metabolic pathway can impair the development of motor control and mentation.Methods We studied and treated an infant with extrapyramidal signs who was shown-by assay for urinary creatinine and by analysis of brain metabolites with use of nuclear magnetic resonance spectra-to have depletion of body and brain creatine, due to inborn deficiency of guanidinoacetate methyltransferase (GAMT).Findings Long-term oral administration of creatine-monohydrate (4-8 g per day) to this index patient resulted in substantial clinical improvement, disappearance of magnetic resonance (MRI) signal abnormalities in the globus pallidus, and normalisation of slow background activity on the electroencephalogram (EEG). During the 25-month treatment period, both brain and total body creatine concentrations became normal.Interpretation Oral creatine replacement has proved to be effective in one child with an inborn error of GAMT. It may well be effective in the treatment of other disorders of creatine synthesis.