{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T09:50:10Z","timestamp":1792144210798,"version":"4.4.0"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2011,6,10]],"date-time":"2011-06-10T00:00:00Z","timestamp":1307664000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2012,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>X\u2010linked cerebral creatine deficiency is caused by the deficiency of the creatine transporter (CTP) encoded by the SLC6A8 gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and Methods<\/jats:title><jats:p>We report here a series of six patients with severe CTP deficiency, four males and two females; clinical presentations include mild to severe mental retardation (6\/6), associated with psychiatric symptoms (5\/6: autistic behaviour, chronic hallucinatory psychosis), seizures (2\/6) and muscular symptoms (2\/4 males). Diagnosis was suspected upon elevated urinary creatine\/creatinine (except in one of the female patients) and on a markedly decreased creatine peak on magnetic resonance spectroscopy (MRS). Diagnosis was confirmed by molecular analysis that identified four novel mutations not reported so far, including a mutation found twice in two male patients. All patients were treated successively and according to the same protocol by creatine alone then combined to its precursors, L\u2010glycine and L\u2010arginine for 42 months.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results and conclusion<\/jats:title><jats:p>In our patients, creatine supplementation alone or with its precursors L\u2010glycine and L\u2010arginine showed benefit only in the muscular symptoms of the disease and no improvement in the cognitive and psychiatric manifestations and did not modify brain creatine content on MRS of male and female CTP deficient patients. New treatment strategies are required including creatine derivatives transported independently from CTP or using alternative pathways and transporters.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-011-9358-9","type":"journal-article","created":{"date-parts":[[2011,6,9]],"date-time":"2011-06-09T16:31:26Z","timestamp":1307637086000},"page":"151-157","source":"Crossref","is-referenced-by-count":65,"title":["Treatment by oral creatine, L\u2010arginine and L\u2010glycine in six severely affected patients with creatine transporter defect"],"prefix":"10.1002","volume":"35","author":[{"given":"Vassili","family":"Valayannopoulos","sequence":"first","affiliation":[{"name":"Reference Center for Inherited Metabolic Disorders (MaMEA), Necker\u2010Enfants Malades Hospital Paris Descartes University 149 Rue de S\u00e8vres Paris Cedex 75743 France"},{"name":"INSERM U781, Necker\u2010Enfants Malades Hospital Paris Descartes University Paris 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