Article
Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.
Molecular genetics & genomic medicine - 1 Nov 2017
Majumdar Ramanath, Yori Andrew, Rush Peggy W, Raymond Kimiyo, Gavrilov Dimitar, Tortorelli Silvia, Matern Dietrich, Rinaldo Piero, Feldman Gerald L, Oglesbee Devin
Abstract excerpt
BACKGROUND: Elevated plasma and urine formiminoglutamic acid (FIGLU) levels are commonly indicative of formiminoglutamic aciduria (OMIM #229100), a poorly understood autosomal recessive disorder of histidine and folate metabolism, resulting from formiminotransferase-cyclodeaminase (FTCD) deficiency, a bifunctional enzyme encoded by FTCD. METHODS: In order to further understanding about the molecular alterations...
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