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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 ...
- Amino Acid Metabolism Disorders (National Library of Medicine)Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Your digestive system breaks ...
- Newborn Screening (National Library of Medicine)Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include: Tests ...
- Genetic Brain Disorders (National Library of Medicine)A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
