Methylenetetrahydrofolate reductase deficiency: Importance of early diagnosis

Aviva Fattal-Valevski*, Haim Bassan, Stanley H. Korman, Tally Lerman-Sagie, Alisa Gutman, Shaul Harel

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Methylenetetrahydrofolate reductase deficiency is the most common inborn error of folate metabolism and should be suspected when homocystinuria is combined with hypomethioninemia. The main clinical findings are neurologic signs such as severe developmental delay, marked hypotonia, seizures, microcephaly, apnea, and coma. Most patients present in early life. The infantile form is severe, with rapid deterioration leading to death usually within 1 year. Treatment with betaine has been shown to be efficient in lowering homocysteine concentrations and returning methionine to normal, but the clinical response is variable. We report two brothers with methylenetetrahydrofolate reductase deficiency: the first was undiagnosed and died at 8 months of age from neurologic deterioration and apnea, while his brother, who was treated with betaine from the age of 4 months, is now 3 years old and has developmental delay.

Original languageEnglish
Pages (from-to)539-543
Number of pages5
JournalJournal of Child Neurology
Issue number8
StatePublished - 2000


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