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Updated: Jun 20, 2026

Treating SCA1 Mice with Water-Soluble Compounds to Non-Specifically Boost Mitochondrial Function
Published on: January 22, 2017
Pre-symptomatic treatment of creatine biosynthesis defects
Andreas Schulze1, Roberta Battini
1University 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.
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).
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