Formiminoglutamic aciduria
General Information (adopted from Orphanet):
| Synonyms, Signs: |
FIGLU-URIA FORMIMINOGLUTAMIC ACIDURIA glutamate formiminotransferase deficiency FTCD deficiency Formiminotransferase cyclodeaminase deficiency |
| Number of Symptoms | 11 |
| OrphanetNr: | 51208 |
| OMIM Id: |
229100
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| ICD-10: |
D52.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Constitutional megaloblastic anemia due to folate metabolism disorder
-Rare genetic disease -Rare hematologic disease Disorder of folate metabolism and transport -Rare genetic disease |
Symptom Information:
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(HPO:0003355) | Aminoaciduria | 65 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001510) | Growth delay | 295 / 7739 | ||||
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(HPO:0004821) | Hypersegmentation of neutrophil nuclei | 2 / 7739 | ||||
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(HPO:0001889) | Megaloblastic anemia | 28 / 7739 | ||||
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(HPO:0003612) | Positive ferric chloride test | 2 / 7739 | ||||
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(OMIM) | Formiminoglutamic aciduria | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Physical retardation | 3 / 7739 | ||||
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(OMIM) | Glutamate formiminotransferase deficiency | 1 / 7739 | ||||
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(OMIM) | Hyperfolicacidemia | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Glutamate formiminotransferase deficiency is an autosomal recessive disorder and the second most common inborn error of folate metabolism. Features of a severe phenotype include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic ... |
| Clinical Description OMIM |
In the 2 related Japanese patients reported by Arakawa et al. (1965, 1966), mental retardation was the main clinical feature. The ferric chloride test was positive due to formiminoglutamic acid in the urine. Other features were marked physical ... |
| Molecular genetics OMIM | Hilton et al. (2003) identified mutations in the FTCD gene in 3 patients with glutamate formiminotransferase deficiency (e.g., 606806.0001). |