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NEUROLOGY 2006;67:719-721
© 2006 American Academy of Neurology
Brief Communications

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency

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

From the Department of Pediatrics I (A.S., G.F.H.), University Children's Hospital, Heidelberg, Germany; German Cancer Research Center (P.B., S.K.), Heidelberg, Germany; Metabolic Unit of the Department of Clinical Chemistry (G.S.S., N.M.V.), VU University Medical Center, Amsterdam, The Netherlands; and Department of General Pediatrics (E.M.), University Children's Hospital, Duesseldorf, Germany.

Address correspondence and reprint requests to Dr. Andreas Schulze, Department of Pediatrics I, University Children's Hospital, Im Neuenheimer Feld 153, D-69120 Heidelberg, Germany; e-mail: andreas.schulze{at}urz.uni-heidelberg.de

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.

Disclosure: The authors report no conflicts of interest.

Received February 1, 2006. Accepted in final form April 20, 2006.




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