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Methylenetetrahydrofolate Reductase Deficiency: Importance of Early Diagnosis

Institute for Child Development and Pediatric Neurology Unit, Division of Pediatrics, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, afatal{at}post.tau.ac.il

Haim Bassan, MD

Institute for Child Development and Pediatric Neurology Unit, Division of Pediatrics, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv

Stanley H. Korman, MBBS, FRACP

Department of Clinical Biochemistry, Hadassah University Hospital, Jerusalem

Tally Lerman-Sagie, MD

Pediatric Neurology Unit and Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel

Alisa Gutman, MD

Department of Clinical Biochemistry, Hadassah University Hospital, Jerusalem

Shaul Harel, MD

Institute for Child Development and Pediatric Neurology Unit, Division of Pediatrics, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv

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. (J Child Neurol 2000;15:539—543).

Journal of Child Neurology, Vol. 15, No. 8, 539-543 (2000)
DOI: 10.1177/088307380001500808


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