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Journal of Child Neurology
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Severe Speech Delay as the Presenting Symptom of Guanidinoacetate Methyltransferase Deficiency

J. Vodopiutz, MD

Division of Biochemical and Paediatric Genetics, Department of General Paediatrics, University Children's Hospital Vienna, Austria

C.B. Item, PhD

Division of Biochemical and Paediatric Genetics, Department of General Paediatrics, University Children's Hospital Vienna, Austria

M. Häusler, MD

Division of Paediatric Neurology, Department of Paediatrics, University Hospital, RWTH Aachen, Germany

H. Korall, PhD

Biochemical Disease Laboratory, Reutlingen, Germany

O.A. Bodamer, MD

Division of Biochemical and Paediatric Genetics, Department of General Paediatrics, University Children's Hospital Vienna, Austria, olaf.bodamer{at}meduniwien.ac.at

Guanidinoacetate methyltransferase deficiency typically presents with muscular hypotonia, global developmental delay, extrapyramidal signs, and seizures during infancy and childhood. The authors report a 5-year-old child with guanidinoacetate methyltransferase deficiency who presented with severe speech delay, emphasizing the importance of an early screening for disorders of creatine synthesis and transport in every infant or child with isolated speech delay of unknown cause.

Key Words: guanidinoacetate methyltransferase deficiency • creatine • speech delay • seizures

Journal of Child Neurology, Vol. 22, No. 6, 773-774 (2007)
DOI: 10.1177/0883073807304015
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