(Q28065544)

English

methylmalonic acidemia due to transcobalamin receptor defect

methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has material basis in mutation in the CD320 gene

  • methylmalonic acidemia, TCb1R type
  • methylmalonic acidemia, TCbIR type
  • methylmalonic aciduria due to transcobalamin receptor defect
  • methylmalonic acidemia, TCblR type

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