Summary
Background
Treatment with oral creatine monohydrate has not shown efficacy in patients with creatine transporter deficiency (CRTR-D). Another therapeutic option proposed is l-arginine, the substrate for the enzyme l-arginine:glycine amidinotransferase (AGAT). We evaluate clinical characteristics and cerebral creatine replenishment after l-arginine therapy in four patients with CRTR-D.
Patients and methods
Four boys with genetically confirmed diagnosis of CRTR-D (ages 9–16 years) were supplemented with l-arginine (0.4 g/kg per day) for a period of 9 months. Treatment efficacy was evaluated by clinical and neuropsychological assessment and determination of creatine signals by brain proton magnetic resonance spectroscopy (1H-MRS).
Results
Epileptic seizures remained well controlled with antiepileptic drugs in three cases, both before and after l-arginine supplementation. Vineland Adaptive Behaviour Scale did not show any change in communication, daily living skills, socialization or motor skills, and a lack of improvement in brain 1H-MRS follow-up was observed. l-Arginine was discontinued at the end of the observation period.
Conclusions
Nine months of l-arginine supplementation did not show effectiveness in the four patients affected with CRTR-D in this protocol.
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Communicating editor: Sylvia Stockler-Ipsiroglu
Competing interests: None declared
References to electronic databases: l-Arginine:glycine amidinotransferase deficiency: OMIM 602360. Guanidinoacetate methyltransferase deficiency: OMIM 601240. Creatine transporter deficiency: OMIM: 300036.
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Fons, C., Sempere, A., Arias, A. et al. Arginine supplementation in four patients with X-linked creatine transporter defect. J Inherit Metab Dis 31, 724–728 (2008). https://doi.org/10.1007/s10545-008-0902-1
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DOI: https://doi.org/10.1007/s10545-008-0902-1