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"Glutamate%formiminotransferase%deficiency"
- Glutamate formiminotransferase deficiency is an inherited disorder that affects physical and mental development. There are two forms of this condition, which are ...
- ... 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 ...