Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle.

@article{Ensenauer2004GuanidinoacetateMD,
  title={Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle.},
  author={Regina E Ensenauer and Thorsten Thiel and Karl Otfried Schwab and Ulrich Tacke and Sylvia Stoeckler-Ipsiroglu and Andreas Schulze and Juergen Hennig and Willy Lehnert},
  journal={Molecular genetics and metabolism},
  year={2004},
  volume={82 3},
  pages={208-13}
}
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… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 27 extracted citations

Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers

Journal of Inherited Metabolic Disease • 2011
View 2 Excerpts
Highly Influenced

Similar Papers

Loading similar papers…