Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: A case report of nonclassical homocystinuria

Lisa Bishop, Richard Kanoff, Lawrence Charnas, Charles Krenzel, Susan A Berry, Lisa A Schimmenti

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13 Scopus citations


Severe methylenetetrahydrofolate reductase deficiency is an autosomal recessive metabolic disorder of folate metabolism causing elevated plasma homocysteine levels and homocystinuria (MIM 236250). A developmentally delayed 10-year-old girl presented with symptoms of progressive ataxia, dysarthria, tremor, mental status changes, and white-matter changes on magnetic resonance imaging. These changes occurred during a 3- to 4-month time period, with an acceleration of symptoms during 2 to 3 weeks. The patient was found to have extremely high serum homocysteine and low-normal serum methionine. She received treatment with vitamin B12, folate, betaine, multivitamins, and aspirin, with subsequent improvement of her symptoms and reduction in her serum homocysteine level. This case emphasizes the need to include homocystinuria in the differential diagnosis of children with acute/ subacute neurological changes, particularly in the context of developmental delay.

Original languageEnglish (US)
Pages (from-to)823-828
Number of pages6
JournalJournal of Child Neurology
Issue number7
StatePublished - Jul 2008

Bibliographical note

Copyright 2008 Elsevier B.V., All rights reserved.


  • Homocystinuria
  • Methylenetetrahydrofolate reductase
  • Newborn metabolic screen


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