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ENGlutamate Formiminotransferase Deficiency (FIGLU-URIA)
Alias:
Formiminoglutamic Aciduria
Formiminotransferase Cyclodeaminase Deficiency
Formiminotransferase Deficiency
Ftcd Deficiency
Figlu-Uria
Arakawa Syndrome 1
Formiminotransferase Deficiency Syndrome
Formiminoglutamic Acidemia
Formiminoglutamicaciduria
Figluria
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Glutamate Formiminotransferase Deficiency, also known as formiminoglutamic aciduria, is related to homocystinuria and megaloblastic anemia. An important gene associated with Glutamate Formiminotransferase Deficiency is FTCD (Formimidoyltransferase Cyclodeaminase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include skin and neutrophil, and related phenotypes are abnormal circulating histidine concentration and abnormality of folate metabolism
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MALACARDS
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