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Results 1 - 1 of 1 for GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
  1. FTCD gene 
    ... At least three FTCD gene mutations that cause glutamate formiminotransferase deficiency have been identified. Two of these mutations change ... affected individuals and, in some severe cases of glutamate formiminotransferase deficiency, a buildup of certain B vitamins called folates ...
    https://medlineplus.gov/genetics/gene/ftcd - Genetics