Journal
MOLECULAR GENETICS AND METABOLISM
Volume 82, Issue 3, Pages 208-213Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2004.04.005
Keywords
guanidinoacetate methyltransferase; creatine deficiency; proton magnetic resonance spectroscopy; phosphorus magnetic resonance spectroscopy; skeletal muscle; intermittent high-dose creatine therapy; arginine restriction; ornithine supplementation
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Deficiency of guanidinoacetate methyltransferase (GAMT), the first described creatine biosynthesis defect, leads to depletion of creatine and phosphocreatine, and accumulation of guanidinoacetate in brain. This results in epilepsy, mental retardation, and extrapyramidal movement disorders. Investigation of skeletal muscle by proton and phosphorus magnetic resonance spectroscopy before therapy demonstrated the presence of considerable amounts of creatine and phosphocreatine, and accumulation of phosphorylated guanidinoacetate in a 7-year-old boy diagnosed with GAMT deficiency, suggesting separate mechanisms for creatine uptake and synthesis in brain and skeletal muscle. The combination of creatine supplementation and a guanidinoacetate-lowering therapeutic approach resulted in improvement of clinical symptoms and metabolite concentrations in brain, muscle, and body fluids. (C) 2004 Elsevier Inc. All rights reserved.
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