Chilosi Anna, Leuzzi Vincenzo, Battini Roberta, Tosetti Michela, Ferretti Giovanni, Comparini Alessandro, Casarano Manuela, Moretti Elena, Alessandri M Grazia, Bianchi M Cristina, Cioni Giovanni
Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone, Pisa, Italy.
Neurocase. 2008;14(2):151-61. doi: 10.1080/13554790802060821.
Creatine transporter deficit (CT1) is an inherited metabolic disorder that causes mental retardation, epilepsy, speech, language and behavioral deficits. Until now, no treatment has been proven to be successful for this condition. We describe 1-year follow-up study of a child, aged 9.6 years, with CT1 defect, on oral supplementation with L-arginine, a precursor of creatine synthesis. Under supplementation, he showed a noticeable improvement of neurological, language and behavioral status and an increase of brain creatine and phosphocreatine documented with magnetic resonance spectroscopy. The results suggest that children with CT1 disorder show some residual adaptive plasticity for certain functions even at quite an advanced age. Further trials with higher L-arginine dosages and more protracted treatment are encouraged.
肌酸转运体缺陷（CT1）是一种遗传性代谢紊乱疾病，可导致智力发育迟缓、癫痫、言语、语言和行为缺陷。迄今为止，尚无治疗方法被证明对这种疾病有效。我们描述了一项针对一名9.6岁患有CT1缺陷儿童的为期1年的随访研究，该儿童口服肌酸合成前体L-精氨酸进行补充治疗。在补充治疗期间，他的神经、语言和行为状况有明显改善，磁共振波谱显示脑内肌酸和磷酸肌酸增加。结果表明，即使在年龄较大时，患有CT1障碍的儿童在某些功能方面仍表现出一定的残余适应性可塑性。鼓励进行更高剂量L-精氨酸和更长疗程治疗的进一步试验。
