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Arginine supplementation in four patients with X‐linked creatine transporter defect
Author(s) -
Fons C.,
Sempere A.,
Arias A.,
LópezSala A.,
Póo P.,
Pineda M.,
Mas A.,
Vilaseca M. A.,
Salomons G. S.,
Ribes A.,
Artuch R.,
Campistol J.
Publication year - 2008
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-008-0902-1
Subject(s) - creatine , arginine , medicine , neuropsychology , pediatrics , gastroenterology , endocrinology , physical therapy , biochemistry , psychiatry , biology , amino acid , cognition
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 ( 1 H‐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 1 H‐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.