Methylation status in females with rett syndrome.
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.
Freilinger
Michael
M
Vienna University Hospital, Department of Pediatrics, Vienna, Austria.
Kalisch
David
D
Muehl
Adolf
A
Haas
Oskar
O
Moritz
Anne
A
Bodamer
Olaf
O
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003401:Creatine / Q000378:metabolism*; D005260:Female; D005492:Folic Acid / Q000097:blood; D006801:Humans; D008715:Methionine / Q000378:metabolism*; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D008745:Methylation; D015518:Rett Syndrome / Q000178:diet therapy / Q000235:genetics / Q000378:metabolism*
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D005492:Folic Acid; D008715:Methionine; D003401:Creatine