%0 Journal Article
%T Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency
%A Annamaria Chilosi
%A Manuela Casarano
%A Alessandro Comparini
%A Francesca Maria Battaglia
%A Margherita Maria Mancardi
%A Cristina Schiaffino
%A Michela Tosetti
%A Vincenzo Leuzzi
%A Roberta Battini
%A Giovanni Cioni
%J Orphanet Journal of Rare Diseases
%D 2012
%I BioMed Central
%R 10.1186/1750-1172-7-43
%X In this study five Italian male patients affected by CRTR-D were supplemented with oral L-Arg at a dosage of 300£¿mg/kg/day divided into 3 doses, for 24¨C36£¿months. Biochemical and plasmatic amino acids examinations and thyroid hormone dosages were periodically performed. Moreover, Proton and Phosphorus Magnetic Resonance Spectroscopy (MRS) was monitored during follow-up in concurrence with neuropsychological evaluations.During L-Arg treatment a clinical improvement in motor skills and to a lesser extent in communication and attention was observed. In addition, all patients had a reduction in the number and frequency of epileptic seizures. Daily living skills appeared also to be positively influenced by L-Arg treatment. Moreover, Total Cr and especially PhosphoCr, evaluated by proton and phosphorus spectroscopy, showed a mild increase, although well below the normal range.This study provides information to support the effectiveness of L-Arg supplement treatment in CTRT-D patients; in fact the syndromic pattern of cognitive and linguistic deficit presented by CRTR-D patients was partially altered by L-Arg supplementation especially at a qualitative clinical level. Oral L-Arg may represent not only a protective factor towards a further cognitive decline, but can lead to the acquisition of new skills.
%K Creatine transporter deficiency
%K XLMR
%K Speech delay
%K Arginine treatment
%K SLC6A8 gene
%K Magnetic resonance spectroscopy
%U http://www.ojrd.com/content/7/1/43/abstract