methylenetetrahydrofolate reductase (MTHFR) deficiency
- methylenetetrahydrofolate reductase (MTHFR) deficiency
- meth·y·lene·tet·ra·hy·dro·fo·late re·duc·tase (MTHFR) de·fi·cien·cy (meth″ə-lēn-tet″rə-hi″dro-foґlāt re-dukґtās) a common, autosomal recessive, inborn error of folate metabolism caused by mutation in the MTHFR gene (locus: 1p36.3), which encodes the enzyme. The chief biochemical finding is homocystinuria with normal levels of plasma methionine. Clinical manifestations, age of onset, and severity are highly variable; characteristics include signs of neurologic damage ranging from psychiatric symptoms to fatal developmental delay, microcephaly, ectopia lentis, and thrombosis. Some patients are asymptomatic.
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2011.
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