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Pre-Symptomatic Treatment of Creatine Biosynthesis Defects

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

Abstract

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)

Keywords

Creatine Supplementation Creatine Synthesis Guanidino Compound GAMT Deficiency Guanidinoacetic Acid 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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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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