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

Anna Chilosi1, Vincenzo Leuzzi, Roberta Battini

  • 1Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone, Pisa, Italy.

Neurocase
|June 24, 2008
PubMed

Insights

Creatine transporter deficit (CT1) is a rare inherited disorder. L-arginine supplementation showed potential neurological and behavioral improvements in a child with CT1.

Area of Science:

  • Biochemistry
  • Neuroscience
  • Genetics

Background:

  • Creatine transporter deficit (CT1) is an inherited metabolic disorder.
  • CT1 causes significant neurological impairments, including intellectual disability, epilepsy, and speech/language deficits.
  • Currently, no effective treatments exist for CT1.

Observation:

  • A 9.6-year-old child with CT1 was treated with oral L-arginine, a creatine synthesis precursor.
  • The study involved a 1-year follow-up to assess treatment efficacy.
  • Magnetic resonance spectroscopy was used to monitor brain creatine and phosphocreatine levels.

Findings:

  • The child exhibited notable improvements in neurological, language, and behavioral status.
  • Brain creatine and phosphocreatine levels increased significantly during L-arginine supplementation.
  • These results indicate potential for residual adaptive plasticity in CT1 patients, even at an advanced age.

Implications:

  • L-arginine supplementation may offer a therapeutic avenue for managing CT1 symptoms.
  • Further research with higher L-arginine doses and longer treatment durations is warranted.
  • This study highlights the potential for neuro-metabolic interventions in inherited neurological disorders.

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