Pre-symptomatic treatment of creatine biosynthesis defects.
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).
Schulze
Andreas
A
University of Toronto, Department of Paediatrics, Division of Clinical and Metabolic Genetics, and Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, ON. M5G 1X8, Canada.
Battini
Roberta
R
D000579:Amidinotransferases / Q000172:deficiency*; D001928:Brain Diseases, Metabolic / Q000151:congenital / Q000188:drug therapy* / Q000201:enzymology*; D003401:Creatine / Q000627:therapeutic use*; D005998:Glycine / Q000031:analogs & derivatives* / Q000627:therapeutic use; D050937:Guanidinoacetate N-Methyltransferase / Q000172:deficiency*; D006801:Humans
C494506:GAMT protein, human; D050937:Guanidinoacetate N-Methyltransferase; D000579:Amidinotransferases; C020681:glycine amidinotransferase; C004946:glycocyamine; D003401:Creatine; D005998:Glycine