期刊
NEUROCASE
卷 14, 期 2, 页码 151-161出版社
ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
DOI: 10.1080/13554790802060821
关键词
Creatine deficit transporter; L-Arginine treatment; mental retardation; X-linked disorders; brain plasticity
资金
- Telethon [GGP04092] Funding Source: Medline
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.
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