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Neurogenetics. 2005 Sep;6(3):165-8. Epub 2005 Sep 28.

X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation.

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  • 1Department of Pediatrics, G. Gaslini Institute, State University of Genoa, Genoa, Italy.


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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