X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism

@article{PoArgelles2006XLinkedCT,
  title={X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism},
  author={P. P{\'o}o-Arg{\"u}elles and {\'A}. Arias and M. Vilaseca and A. Ribes and R. Artuch and A. Sans-Fit{\'o} and A. Moreno and C. Jakobs and G. Salomons},
  journal={Journal of Inherited Metabolic Disease},
  year={2006},
  volume={29},
  pages={220-223}
}
SummaryWe describe the first two unrelated Spanish patients with creatine transporter deficiency initially identified by brain proton magnetic resonance spectroscopy (MRS). The clinical phenotype was characterized by severe mental retardation, epilepsy, autism, severe speech delay and absence of brain creatine by MRS. Urine creatine/creatinine ratio was increased and creatine uptake in fibroblasts was impaired in both patients. On DNA sequence analysis of the SLC6A8/creatine transporter gene… Expand
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