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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the FTCD gene cause glutamate formiminotransferase deficiency. The FTCD gene provides instructions for making an enzyme that is involved in the breakdown of histidine, which is a building block (amino acid) of many different proteins. One of the enzyme&#x27;s jobs is to convert FIGLU to a molecule called 5-formiminotetrahydrofolate.</p><p>The FTCD gene variants that cause glutamate formiminotransferase deficiency alter the function of the FTCD enzyme, which disrupts the enzyme’s ability to completely break down histidine. This can cause FIGLU to build up in the body and be released in the urine. It is unclear exactly how these changes are related to the specific health problems seen in some people with glutamate formiminotransferase deficiency.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/glutamate-formiminotransferase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Glutamate formiminotransferase deficiency?"},{"bodyHtml":"<p>In the past, researchers recognized a mild form and a severe form of glutamate formiminotransferase deficiency. Researchers have since found people who received a diagnosis of glutamate formiminotransferase deficiency as infants who do not appear to have any related health problems. Researchers are actively working to learn more about this condition.</p><p>The signs and symptoms associated with glutamate formiminotransferase deficiency have ranged from mild developmental delays with high urine levels of a molecule called formiminoglutamate (FIGLU) to more severe intellectual disabilities and megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia) and the remaining red blood cells are larger than normal (megaloblastic).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/glutamate-formiminotransferase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"glutamate-formiminotransferase-deficiency","sourceDocuments":[{"name":"Glutamate formiminotransferase deficiency","reviewed":"2025-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:48.702492+00:00","label":"Causes","pageSha256":"e44113c8c26ca763b17d0d2e3da7a54e7c230cd375fff555dfbda82d9b65092f","sourceUrl":"https://medlineplus.gov/genetics/condition/glutamate-formiminotransferase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/glutamate-formiminotransferase-deficiency"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Glutamate formiminotransferase deficiency"},"schemaVersion":1}