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

J Comput Assist Tomogr. 2003 Jan-Feb;27(1):44-7. doi: 10.1097/00004728-200301000-00009.

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.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Amino Acid Metabolism, Inborn Errors / pathology
  • Brain / pathology
  • Brain Chemistry*
  • Codon, Nonsense
  • Creatine / analysis
  • Creatine / deficiency*
  • Creatine / genetics
  • Female
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / pathology
  • Heterozygote*
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Spectroscopy*
  • Membrane Transport Proteins / deficiency*
  • Membrane Transport Proteins / genetics*

Substances

  • Codon, Nonsense
  • Membrane Transport Proteins
  • creatine transporter
  • Creatine

Associated data

  • OMIM/300036