Abstract
Creatine transporter deficiency is an X-linked disorder characterized by mental retardation and language delay. The authors report a patient affected by creatine transport deficiency caused by a novel mutation in the SLC6A8 gene. Impairment in social interaction represents a consistent clinical finding in the few cases described to date and may be a diagnostic clue for creatine transporter deficiency in males affected by mental retardation, seizures, and language impairment.
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Acknowledgements
We gratefully appreciate the technical assistance provided by P.S. Darmin, S.J.M. van Dooren, Yodit Jacob, and E.H. Rosenberg.
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Schiaffino, M.C., Bellini, C., Costabello, L. et al. X-linked creatine transporter deficiency. Neurogenetics 6, 165–168 (2005). https://doi.org/10.1007/s10048-005-0002-4
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DOI: https://doi.org/10.1007/s10048-005-0002-4