Methylenetetrahydrofolate reductase deficiency: therapy and outcome (with video)

Abstract

The methylenetetrahydrofolate reductase (MTHFR) deficiency (OMIM 236250) is based on an inborn error of folate metabolism with a broad variability of clinical presentation. Early forms often show a progressive neurological deterioration combined with a severe epileptic encephalopathy. Indicative laboratory findings show homocysteine elevated and methionine reduced. We present the course of the disease in a girl, who was diagnosed with MTHFR-deficient at the age of 6 months (Video).