Abstract #0484

Phosphorous and Proton MR Spectroscopy Study of Creatine Transporter Deficiency

Shizhe Steve Li¹, Simona Bianconi¹, Jan Willem van der Veen¹, JoEllyn Stolinski¹, An Dang Du¹, Kim M Cecil², Porter Forbes¹, and Jun Shen¹

¹National Institutes of Health, Bethesda, MD, United States, ²Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States

The X- linked Creatine Transporter Deficiency (CTD) is one of three types of the cerebral creatine deficiency disorders. It is caused by mutations in the X-linked gene SLC6A8. We report the first combined ³¹P and ¹H MRS study of CTD patients. Relative concentrations of key metabolites were quantitatively analyzed. The PCr/total-phosphate and total-Cr/NAA ratios were found to be markedly reduced in CTD patients. By combining the proton and ³¹P data we found that the relative reduction in PCr in CTD patients is much less than that of total Cr.

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