Formiminoglutamic aciduria (Q83936): Difference between revisions
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A acidúria formiminoglutâmica, em sua forma moderada e na ausência de administração de histidina, é caracterizada por leve atraso no desenvolvimento e concentrações elevadas de formiminoglutamato (FIGLU) na urina. Um fenótipo mais grave foi descrito em cinco membros de uma família japonesa e incluiu déficit intelectual grave, retardo psicomotor e anemia megaloblástica. A acidúria formiminoglutâmica é uma doença autossômica recessiva causada por uma deficiência de glutamato formiminotransferase -ciclodeaminase (FTCD), uma enzima envolvida no metabolismo do ácido fólico. | |||
| description / en | description / en | ||
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. | |||
Revision as of 09:18, 15 August 2026
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 |
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| 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. |
