![[logo] US EPA](https://webarchive.library.unt.edu/eot2008/20090508201357im_/http://www.epa.gov/epafiles/images/logo_epaseal.gif){kind=logo}
Abstract: Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency.
Site Navigation
 |
Research Project Search
Citation: Cecil KM, DeGrauw TJ, Salomons GS, Jakobs C, Egelhoff JC, Clark JF. Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency. Journal of Computer Assisted Tomography, 2003;27(1):44-47.
Abstract:
An X-linked creatine deficiency syndrome caused by mutations in the creatine transporter gene SLC6A8/CRTR mapped to Xq28 has recently been described. Essential in the recognition of this disorder is the absence of creatine on proton magnetic resonance spectroscopy (MRS) examination. A 9-day-old heterozygous female child with this syndrome demonstrated a significant reduction of creatine on proton MRS. She is a carrier of the R514X nonsense mutation.
Centers Funded By: 