Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism.

@article{Stckler1996CreatineRT,
  title={Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism.},
  author={Sylvia St{\"o}ckler and Folker A Hanefeld and Jens Frahm},
  journal={Lancet},
  year={1996},
  volume={348 9030},
  pages={789-90}
}
BACKGROUND The creatine/creatine-phosphate system is essential for the storage and transmission of phosphate-bound energy in muscle and brain. In infants, inefficiency or failure of this metabolic pathway can impair the development of motor control and mentation. METHODS We studied and treated an infant with extrapyramidal signs who was shown--by assay for urinary creatinine and by analysis of brain metabolites with use of nuclear magnetic resonance spectra--to have depletion of body and… CONTINUE READING
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