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Case Reports
. 2003 Jan-Feb;27(1):44-7.
doi: 10.1097/00004728-200301000-00009.

Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency

Kim M Cecil  1 , Ton J DeGrauw, Gajja S Salomons, Cornelis Jakobs, John C Egelhoff, Joseph F Clark
Affiliations
Case Reports

Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency

Kim M Cecil et al. J Comput Assist Tomogr. 2003 Jan-Feb.

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.

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