X-linked creatine transporter defect: An overview

@article{Salomons2003XlinkedCT,
  title={X-linked creatine transporter defect: An overview},
  author={Gajja Sophi Salomons and Silvy J. M. van Dooren and Nanda M. Verhoeven and Di Marsden and Charles Schwartz and Kim M. Cecil and Ton J. Degrauw and Cornelis Jakobs},
  journal={Journal of Inherited Metabolic Disease},
  year={2003},
  volume={26},
  pages={309-318}
}
Summary: In 2001 we identified a new inborn error of metabolism caused by a defect in the X-linked creatine transporter SLC6A8 gene mapped at Xq28 (SLC6A8 deficiency, McKusick 300352). An X-linked creatine transporter defect was presumed because of (1) the absence of creatine in the brain as indicated by proton magnetic resonance spectroscopy (MRS); (2) the elevated creatine levels in urine and normal guanidinoacetate levels in plasma, ruling out a creatine biosynthesis defect; (3) the absence… CONTINUE READING
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