Abstract:
: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.
journal_name
Neurocasejournal_title
Neurocaseauthors
Chilosi A,Leuzzi V,Battini R,Tosetti M,Ferretti G,Comparini A,Casarano M,Moretti E,Alessandri MG,Bianchi MC,Cioni Gdoi
10.1080/13554790802060821subject
Has Abstractpub_date
2008-01-01 00:00:00pages
151-61issue
2eissn
1355-4794issn
1465-3656pii
792984709journal_volume
14pub_type
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