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

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

Neurocase

journal_title

Neurocase

authors

Chilosi A,Leuzzi V,Battini R,Tosetti M,Ferretti G,Comparini A,Casarano M,Moretti E,Alessandri MG,Bianchi MC,Cioni G

doi

10.1080/13554790802060821

subject

Has Abstract

pub_date

2008-01-01 00:00:00

pages

151-61

issue

2

eissn

1355-4794

issn

1465-3656

pii

792984709

journal_volume

14

pub_type

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