Abstract Title:

Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect.

Abstract Source:

Neurocase. 2008;14(2):151-61. PMID: 18569740

Abstract Author(s):

Anna Chilosi, Vincenzo Leuzzi, Roberta Battini, Michela Tosetti, Giovanni Ferretti, Alessandro Comparini, Manuela Casarano, Elena Moretti, M Grazia Alessandri, M Cristina Bianchi, Giovanni Cioni

Article Affiliation:

Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone, Pisa, Italy.


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.

Study Type : Human Study

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