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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Schulze, A., Battini, R. (2007). Pre-Symptomatic Treatment of Creatine Biosynthesis Defects. In: Salomons, G.S., Wyss, M. (eds) Creatine and Creatine Kinase in Health and Disease. Subcellular Biochemistry, vol 46. Springer, Dordrecht. https://doi.org/10.1007/978-1-4020-6486-9_9
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DOI: https://doi.org/10.1007/978-1-4020-6486-9_9
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