Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 14-04-2020
Symbol MTRRD
Location 5p15.31
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
    hematology
    Type disease
    Gene product
    Name methionine synthase reductase (MTRR)
    Remark(s)