Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

J.M. van de Kamp, P.J.W. Pouwels, F.K. Aarsen, L.W. Hoopen, D.L. Knol, J.B. de Klerk, I.F. de Coo, J.G. Huijmans, C.A.J.M. Jakobs, M.S. van der Knaap, G.S. Salomons, G.M. Mancini

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The creatine transporter (CRTR) defect is a recently discovered cause of X-linked intellectual disability for which treatment options have been explored. Creatine monotherapy has not proved effective, and the effect of treatment with L-arginine is still controversial. Nine boys between 8 months and 10 years old with molecularly confirmed CRTR defect were followed with repeated (1)H-MRS and neuropsychological assessments during 4-6 years of combination treatment with creatine monohydrate, L-arginine, and glycine. Treatment did not lead to a significant increase in cerebral creatine content as observed with H(1)-MRS. After an initial improvement in locomotor and personal-social IQ subscales, no lasting clinical improvement was recorded. Additionally, we noticed an age-related decline in IQ subscales in boys affected with the CRTR defect
Original languageEnglish
Pages (from-to)141-149
JournalJournal of Inherited Metabolic Disease
Issue number1
Publication statusPublished - 2012

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