Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.

  title={Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.},
  author={Andreas Schulze and Georg Friedrich Hoffmann and Peter Bachert and Sylvia Kirsch and Gajja Sophi Salomons and Nanda M. Verhoeven and Ertan Mayatepek},
  volume={67 4},
Prospective observation in a neonate with guanidinoacetate methyltransferase deficiency (GAMT-D), a severe neurometabolic disorder, revealed increased guanidinoacetate levels at birth. After 14-month treatment with creatine, high-dose ornithine, benzoate, and an arginine-restricted diet, the patient's development is normal and she does not present any symptoms of GAMT-D. The authors' observation indicates that early detection of GAMT-D is possible in the neonatal period, and presymptomatic… CONTINUE READING

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