Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect.
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.
Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone, Pisa, Italy.
Anna
A
Chilosi
Vincenzo
V
Leuzzi
Roberta
R
Battini
Michela
M
Tosetti
Giovanni
G
Ferretti
Alessandro
A
Comparini
Manuela
M
Casarano
Elena
E
Moretti
M Grazia
MG
Alessandri
M Cristina
MC
Bianchi
Giovanni
G
Cioni
D001120:Arginine / Q000627:therapeutic use*; D001526:Behavioral Symptoms / Q000188:drug therapy* / Q000209:etiology; D001921:Brain / Q000187:drug effects / Q000378:metabolism / Q000503:physiopathology; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000503:physiopathology; D002648:Child; D003071:Cognition / Q000187:drug effects; D003401:Creatine / Q000378:metabolism; D005500:Follow-Up Studies; D006801:Humans; D007806:Language Disorders / Q000188:drug therapy* / Q000209:etiology; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D026901:Membrane Transport Proteins / Q000172:deficiency*; D009422:Nervous System Diseases / Q000188:drug therapy* / Q000209:etiology; D009473:Neuronal Plasticity; D010725:Phosphocreatine / Q000378:metabolism; D016896:Treatment Outcome
D026901:Membrane Transport Proteins; C080679:creatine transporter; D010725:Phosphocreatine; D001120:Arginine; D003401:Creatine