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Journal of Child Neurology
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Methylation Status in Females With Rett Syndrome

Michael Freilinger, MD

Vienna University Hospital, Department of Pediatrics, Vienna, Austria

David Kalisch, MD

Vienna University Hospital, Department of Pediatrics, Vienna, Austria

Adolf Muehl, PhD

Vienna University Hospital, Department of Pediatrics, Vienna, Austria

Oskar Haas, MD

St Anna Children's Hospital, Vienna, Austria

Anne Moritz, MSc

St Anna Children's Hospital, Vienna, Austria

Olaf Bodamer, MD, FACMG

Vienna University Hospital, Department of Pediatrics, Vienna, Austria, olaf.bodamer{at}meduniwien.ac.at

The authors studied methionine and creatine metabolism in females with Rett syndrome. Plasma metabolites (including methionine, homocysteine, guanidinoacetate) and urine creatine/creatinine ratios in 29 females with Rett syndrome were within the age-appropriate range. Although the authors have not been able to identify any abnormalities, it can be speculated that patients with Rett syndrome may benefit from dietary intervention to increase the supply of labile methyl groups to affected tissues.

Key Words: Rett syndrome • methionine • homocysteine • methylation

Journal of Child Neurology, Vol. 22, No. 5, 635-638 (2007)
DOI: 10.1177/0883073807302616
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