Formiminoglutamic aciduria (Q83936)
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Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterised by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anaemia. Formiminoglutamic aciduria is an autosomal recessive disease caused by a deficiency of glutamate formiminotransferase-cyclodeaminase (FTCD), an enzyme involved folic acid metabolism.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_664824338 |
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| English | Formiminoglutamic aciduria |
Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterised by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anaemia. Formiminoglutamic aciduria is an autosomal recessive disease caused by a deficiency of glutamate formiminotransferase-cyclodeaminase (FTCD), an enzyme involved folic acid metabolism. |
