Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect
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 repeated1H-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 H1-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.
|Persistent URL||dx.doi.org/10.1007/s10545-011-9345-1, hdl.handle.net/1765/25734|
van de Kamp, J.M., Pouwels, P.J.W., Aarsen, F.K., ten Hoopen, L.W., Knol, D.L., de Klerk, J.B., … Mancini, G.M.S.. (2011). Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect. Journal of Inherited Metabolic Disease, 1–9. doi:10.1007/s10545-011-9345-1