Pre-symptomatic treatment of creatine biosynthesis defects

Subcell Biochem. 2007;46:167-81. doi: 10.1007/978-1-4020-6486-9_9.


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).

Publication types

  • Review

MeSH terms

  • Amidinotransferases / deficiency*
  • Brain Diseases, Metabolic / congenital
  • Brain Diseases, Metabolic / drug therapy*
  • Brain Diseases, Metabolic / enzymology*
  • Creatine / therapeutic use*
  • Glycine / analogs & derivatives*
  • Glycine / therapeutic use
  • Guanidinoacetate N-Methyltransferase / deficiency*
  • Humans


  • GAMT protein, human
  • Guanidinoacetate N-Methyltransferase
  • Amidinotransferases
  • glycine amidinotransferase
  • glycocyamine
  • Creatine
  • Glycine