Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency
2009; Springer Science+Business Media; Volume: 169; Issue: 2 Linguagem: Inglês
10.1007/s00431-009-0997-x
ISSN1432-1076
AutoresSema Kalkan Uçar, Özge Altun Köroğlu, Ömer Berk, Mehmet Yalaz, Nilgün Kültürsay, Henk J. Blom, Mahmut Çöker,
Tópico(s)Neonatal Health and Biochemistry
ResumoBetaine 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.
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