Methylation status in females with rett syndrome.
作者： Michael Freilinger , David Kalisch , Adolf Muehl , Oskar Haas , Anne Moritz
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摘要: The authors studied methionine and creatine metabolism in females with Rett syndrome. Plasma metabolites (including methionine, homocysteine, guanidinoacetate) urine creatine/creatinine ratios 29 syndrome were within the age-appropriate range. Although have not been able to identify any abnormalities, it can be speculated that patients may benefit from dietary intervention increase supply of labile methyl groups affected tissues.
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A Rett, On a unusual brain atrophy syndrome in hyperammonemia in childhood Wiener Medizinische Wochenschrift. ,vol. 116, pp. 723- 726 ,(1966)
BENGT HAGBERG, FOLKER HANEFELD, ALAN PERCY, OLA SKJELDAL, An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. European Journal of Paediatric Neurology. ,vol. 6, pp. 293- 297 ,(2002) , 10.1053/EJPN.2002.0612
Ruthie E. Amir, Ignatia B. Van den Veyver, Mimi Wan, Charles Q. Tran, Uta Francke, Huda Y. Zoghbi, Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics. ,vol. 23, pp. 185- 188 ,(1999) , 10.1038/13810
Alan K. Percy, Jane B. Lane, Rett syndrome: model of neurodevelopmental disorders. Journal of Child Neurology. ,vol. 20, pp. 718- 721 ,(2005) , 10.1177/08830738050200090301
J. D. Finkelstein, The metabolism of homocysteine: pathways and regulation European Journal of Pediatrics. ,vol. 157, pp. S40- S44 ,(1998) , 10.1007/PL00014300
Alan K Percy, Jane B Lane, Rett syndrome: clinical and molecular update Current Opinion in Pediatrics. ,vol. 16, pp. 670- 677 ,(2004) , 10.1097/01.MOP.0000143693.59408.CE
V.T. Ramaekers, S.I. Hansen, J. Holm, T. Opladen, J. Senderek, M. Hausler, G. Heimann, B. Fowler, R. Maiwald, N. Blau, Reduced folate transport to the CNS in female Rett patients Neurology. ,vol. 61, pp. 506- 515 ,(2003) , 10.1212/01.WNL.0000078939.64774.1B
Mark P Mattson, Thomas B Shea, Folate and homocysteine metabolism in neural plasticity and neurodegenerative disorders. Trends in Neurosciences. ,vol. 26, pp. 137- 146 ,(2003) , 10.1016/S0166-2236(03)00032-8
A. Ormazabal, R. Artuch, M. A. Vilaseca, A. Aracil, M. Pineda, Cerebrospinal fluid concentrations of folate, biogenic amines and pterins in Rett syndrome: treatment with folinic acid. Neuropediatrics. ,vol. 36, pp. 380- 385 ,(2005) , 10.1055/S-2005-873078
S Jill James, Paul Cutler, Stepan Melnyk, Stefanie Jernigan, Laurette Janak, David W Gaylor, James A Neubrander, Metabolic biomarkers of increased oxidative stress and impaired methylation capacity in children with autism The American Journal of Clinical Nutrition. ,vol. 80, pp. 1611- 1617 ,(2004) , 10.1093/AJCN/80.6.1611