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. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/664824338 / rank | |||||||||||||||
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CID11:ID_664824338 | |||||||||||||||
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dki-india-ID_664824338 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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Latest 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.
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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. |
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CID11:ID_664824338
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dki-india-ID_664824338
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Concluído
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13 August 2026
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