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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 21/08/2006
Symbol MTRR
Location 5p15.3-p15.2
Name 5-methyltetrahydrofolate-homocysteine methyltransferase reductase deficiency
Other name(s)
  • homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type
  • Corresponding gene MTRR
    Main clinical features
  • megaloblastic anemia, developmental delay, hyperhomocysteinemia and hypomathioninemia, cblE complementation group of disorders in folate/cobalamin metabolism
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease
    Gene product
    Name methionine synthase reductase (MTRR)