Pre-Symptomatic Treatment of Creatine Biosynthesis Defects

  • Andreas Schulze
  • Roberta Battini
Part of the Subcellular Biochemistry book series (SCBI, volume 46)


Recent observations in two patients, one with AGAT deficiency (AGAT-D) and one with GAMT deficiency (GAMT-D), both diagnosed already at birth, provide first evidence for important therapeutic effects of pre-symptomatic treatment with creatine (Cr) supplementation in AGAT-D and Cr supplementation plus guanidinoacetate lowering strategies in GAMT-D. Although long-term data are lacking, the results suggest that complete prevention of neurological sequelae in early treated patients could be feasible (Battini et al., 2006; Schulze et al., 2006)


Creatine Supplementation Creatine Synthesis Guanidino Compound GAMT Deficiency Guanidinoacetic Acid 
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Copyright information

© Springer 2007

Authors and Affiliations

  • Andreas Schulze
    • 1
  • Roberta Battini
    • 2
  1. 1.Department of Paediatrics, Division of Clinical and Metabolic Genetics and Research Institute, The Hospital for Sick ChildrenUniversity of TorontoCanada
  2. 2.Department of Developmental NeuroscienceIRCCS Stella MarisCalambroneItaly

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