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Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency

A. Schulze, G. Hoffmann, P. Bachert, S. Kirsch, G. Salomons, N. Verhoeven and E. Mayatepek

Neurology, 67 (4), pp.719-721

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.

Contact: Dr. Frank Zöllner last modified: 18.11.2019
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