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Severe Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: A Case Report of Nonclassical Homocystinuria

Department of Pediatrics, University of Minnesota, bisho089{at}umn.edu

Richard Kanoff, MD

Department of Pediatrics, University of Minnesota, Division of Clinical Neuroscience, University of Minnesota

Lawrence Charnas, MD, PhD

Department of Pediatrics, University of Minnesota, Division of Clinical Neuroscience, University of Minnesota

Charles Krenzel, MD

Department of Radiology, University of Minnesota

Susan A. Berry, MD

Department of Pediatrics, University of Minnesota, Institute of Human Genetics, University of Minnesota, Department of Genetics Cell Biology and Development, University of Minnesota, Divisions of Genetics and Metabolism, University of Minnesota

Lisa A. Schimmenti, MD

Institute of Human Genetics, University of Minnesota, Department of Pediatrics, University of Minnesota, Department of Ophthalmology, University of Minnesota, Divisions of Genetics and Metabolism, University of Minnesota, Developmental Biology Center University of Minnesota Medical School

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.

Key Words: methylenetetrahydrofolate reductase • homocystinuria • newborn metabolic screen

Journal of Child Neurology, Vol. 23, No. 7, 823-828 (2008)
DOI: 10.1177/0883073808315410


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