Pre-symptomatic treatment of creatine biosynthesis defects.

  title={Pre-symptomatic treatment of creatine biosynthesis defects.},
  author={Andreas Schulze and Roberta Battini},
  journal={Sub-cellular biochemistry},
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… CONTINUE READING