Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency
Makaleler > Tam Makale · 2009
Yazarlar: Sema KALKAN UÇAR, Özge ALTUN, Omer BERK, Mehmet YALAZ, NİLGÜN KÜLTÜRSAY, Henk J. Blom, Mahmut ÇOKER
EUROPEAN JOURNAL OF PEDIATRICS, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2009, cilt 169, ss 241-243
DOI: 10.1007/s00431-009-0997-x
Özet
Betaine therapy was given for 2 years to a 2-year-old boy with 5,10-methylenetetrahydrofolate reductase deficiency. Used as a methyl donor to lower homocysteine levels through methylation of methionine, betaine has been reported to be effective in treating homocystinuria. Satisfactory biochemical and clinical responses were obtained with the following regimen: betaine started in the newborn period at increasing doses to reach 1 g given six times a day. It is suggested that frequent administration of a moderate dose may provide clinical and biochemical benefit.