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Psychotic symptoms in severe MTHFR deficiency and their successful treatment with betaine



Eur J Pediatr (2003) 162: 200–201 DOI 10.1007/s00431-002-1148-9 R ES E A R C H L E T T E R ¨ ¨ Halvard Bonig Æ Gerhard Daublin Æ Bernd Schwahn Udo Wendel Psychotic symptoms in severe MTHFR deficiency and their successful treatment with betaine Received: 20 August 2002 / Accepted: 4 December 2002 / Published online: 18 January 2003 Ó Springer-Verlag 2003 This is a report on the psychotic symptoms in an insufficiently treated patient with severe 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency, which is a clinical manifestation known only in the mild late-onset variant of the disease. Severe MTHFR deficiency with residual enzyme activity <3% is associated with hyperhomocysteinaemia, homocystinuria and hypomethioninaemia, and clinically with severe developmental delay, seizures and symptoms related to cerebrovascular events. At least three mild late-onset cases with MTHFR activities of 20–50% enzyme activity in fibroblasts have been diagnosed as schizophrenia-like psychosis [1, 3, 4, 5]. Patients with MTHFR deficiency lack 5-methyltetrahydrofolate, which leads to impaired folate-dependent remethylation of homocysteine to methionine and consequently to low S-adenosyl-methionine (SAM) levels. Treatment of MTHFR deficiency consists of pharmacological doses of the methyl donor betaine, which stimulate folate-independent remethylation. We report on severe MTHFR deficiency in a



European Journal of PediatricsSpringer Journals

Published: Mar 1, 2003

DOI: 10.1007/s00431-002-1148-9

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