Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle
R Ensenauer, T Thiel, KO Schwab, U Tacke… - Molecular genetics and …, 2004 - Elsevier
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 …
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 …