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Neurology. 2006 Aug 22;67(4):719-21.

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.

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  • 1Department of Pediatrics I, University Children's Hospital, Heidelberg, Germany.


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 treatment may prevent its manifestation.

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