Successful treatment of a guanidinoacetate methyltransferase deficient patient: Findings with relevance to treatment strategy and pathophysiology

Krijn T. Verbruggen*, Paul E. Sijens, Andreas Schulze, Roelineke J. Lunsing, Cornelis Jakobs, Gajja S. Salomons, Francian J. van Spronsen

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

27 Citations (Scopus)


Biochemical and developmental results of treatment of a guanidinoacetate methyltransferase (GAMT) deficient patient with a mild clinical presentation and remarkable developmental improvement after treatment are presented. Treatment with creatine (Cr) supplementation resulted in partial normalization of cerebral (measured with magnetic resonance proton spectroscopy) and plasma levels of Cr and guanidinoacetate (GAA). Addition of high dose ornithine to the treatment led to further normalization of plasma GAA, while cerebral Cr and GAA did not improve further. (c) 2007 Elsevier Inc. All rights reserved.

Original languageEnglish
Pages (from-to)294-296
Number of pages3
JournalMolecular Genetics and Metabolism
Issue number3
Publication statusPublished - Jul-2007


  • creatine
  • guanidinoacetate methyltransferase
  • guaniclinoacetate
  • treatment
  • magnetic resonance proton spectroscopy
  • GRAY

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