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X-linked creatine transporter deficiency |
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| Authors: | Maria C. Schiaffino Carlo Bellini Laura Costabello Ubaldo Caruso Cornelis Jakobs Gajja S. Salomons Eugenio Bonioli |
| Affiliation: | (1) Department of Pediatrics, G. Gaslini Institute, State University of Genoa, Genoa, Italy;(2) Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands;(3) Dipartimento di Pediatria dell'Universita', Largo G. Gaslini, 5, 16147 Genoa, Italy |
| 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. |
| Keywords: | Creatine transporter deficiency SLC6A8 gene X-linked mental retardation |
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