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. 2006 Aug 22;67(4):719-21.
doi: 10.1212/01.wnl.0000230152.25203.01.

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency

A Schulze  1 , G F Hoffmann, P Bachert, S Kirsch, G S Salomons, N M Verhoeven, E Mayatepek
Affiliations

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency

A Schulze et al. Neurology. .

Abstract

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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