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Glutamate Formiminotransferase Deficiency

GLOO-tuh-mayt • FOR-mih-MEE-noh-TRANS-fuhr-ace• di-FISH-uhn-see

General Condition Information

Other Names

  • Formiminoglutamic acidemia
  • Formiminoglutamic acidemia, glutamate formiminotransferase deficiency

Condition Type

Birth Prevalence

  • It is unknown how many babies are born with this rare condition each year in the United States.

Screening Finding

High levels of formiminoglutamate (FIGLU) +/- C4 acylcarnitine

What is Glutamate Formiminotransferase Deficiency

Glutamate formiminotransferase deficiency is an inherited (genetic) condition that prevents the breakdown of histidine. Histidine is an amino acid, one of the building blocks that makes up proteins.

Formiminotransferase cyclodeaminase (FTCD) is an enzyme in your body that helps break down histidine. This enzyme also helps make an important vitamin called folate.

Without enough working FTCD enzyme, your baby will have trouble breaking down histidine and making folate. Most babies with glutamate formiminotransferase deficiency are well or have very few signs and symptoms.

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

Babies and children with glutamate formiminotransferase deficiency typically do not need any treatment.

If your baby does have signs and symptoms of glutamate formiminotransferase deficiency, it is important to talk to your health care provider about which treatment(s), if any, your baby needs.

Date Last Reviewed: