Pre-symptomatic treatment of creatine biosynthesis defects.

Andreas Schulze, Roberta Battini

Research output: Contribution to journalArticlepeer-review


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).

Original languageEnglish
Pages (from-to)167-181
Number of pages15
JournalSub-Cellular Biochemistry
Publication statusPublished - 2007

ASJC Scopus subject areas

  • Medicine(all)


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