H-1 chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter

PE Sijens*, KT Verbruggen, LC Meiners, RJ Soorani-Lunsing, JP Rake, M Oudkerk

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

22 Citations (Scopus)


MR spectroscopy results in a mild case of guanidinoacetate methyltransferase (GAMT) deficiency are presented. The approach differs from previous MRS studies in the acquisition of a chemical shift imaging spectral map showing gray and white matter with the corresponding spectra in one overview. MR spectroscopy revealed guanidinoacetate (GAA) in the absence of creatine. New is that GAA signals are more prominent in gray matter than in white. In the prevailing view, that enzyme deficiency is localized in liver and pancreas and that all GAA is transported into the brain from the blood and the cerebrospinal fluid, this would be compatible with a more limited uptake and/or better clearance of GAA from the white matter compared to the grey matter.

Original languageEnglish
Pages (from-to)1923-1926
Number of pages4
JournalEuropean Radiology
Issue number9
Publication statusPublished - Sept-2005


  • creatine deficiency syndrome
  • guanidino methyltransferase deficiency
  • energy metabolism
  • magnetic resonance spectroscopy

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