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

Neurocase. 2008;14(2):151-61. doi: 10.1080/13554790802060821.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arginine / therapeutic use*
  • Behavioral Symptoms / drug therapy*
  • Behavioral Symptoms / etiology
  • Brain / drug effects
  • Brain / metabolism
  • Brain / physiopathology
  • Brain Diseases, Metabolic, Inborn / complications*
  • Brain Diseases, Metabolic, Inborn / diagnosis
  • Brain Diseases, Metabolic, Inborn / drug therapy
  • Brain Diseases, Metabolic, Inborn / physiopathology
  • Child
  • Cognition / drug effects
  • Creatine / metabolism
  • Follow-Up Studies
  • Humans
  • Language Disorders / drug therapy*
  • Language Disorders / etiology
  • Magnetic Resonance Spectroscopy
  • Male
  • Membrane Transport Proteins / deficiency*
  • Nervous System Diseases / drug therapy*
  • Nervous System Diseases / etiology
  • Neuronal Plasticity
  • Phosphocreatine / metabolism
  • Treatment Outcome


  • Membrane Transport Proteins
  • creatine transporter
  • Phosphocreatine
  • Arginine
  • Creatine