15 top medical experts on Glutamate formiminotransferase deficiency across 1 countries and 2 U.S. states, including 2 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Glutamate formiminotransferase deficiency: A rare disorder of folate metabolism and transport characterized, biochemically, by elevated formiminoglutamate in urine and plasma due to glutamate formiminotransferase deficiency, associated with a highly variable clinical phenotype, ranging from developmental delay, intellectual disability and anemia to normal development without anemia. Increased hydantoin-5-propionic acid and/or folate in plasma may also be associated.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Synonyms: Arakawa syndrome 1, FIGLU-Uria, Formiminoglutamic Aciduria, Formiminoglutamicaciduria (FIGLU-uria), Formiminotransferase Deficiency, Formiminotransferase deficiency syndrome
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