Treatment with L-Arginine improves neuropsychological disorders in a child with Creatine transporter defect

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)151-161
Number of pages11
JournalNeurocase
Volume14
Issue number2
DOIs
Publication statusPublished - May 2008

Keywords

  • Brain plasticity
  • Creatine deficit transporter
  • L-arginine treatment
  • Mental retardation
  • X-linked disorders

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Psychiatry and Mental health
  • Psychology(all)

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