formiminoglutamic aciduria
Findings
No curated finding names formiminoglutamic aciduria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized 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 anemia.
Definition from the Mondo Disease Ontology (MONDO:0009240), read 2026-09-29. CC BY 4.0.
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Abnormal circulating folate concentrationHPOHP:0040087
- Very frequent (80% to 99% of cases)
- Abnormal circulating histidine concentrationHPOHP:0010904
- Very frequent (80% to 99% of cases)
- Abnormal concentration of acylcarnitine in the urineHPOHP:0500170
- Frequent (30% to 79% of cases)
- Increased circulating folate concentrationHPOHP:0032164
- Frequent (30% to 79% of cases)
- AnemiaHPOHP:0001903
- Occasional (5% to 29% of cases)
Show the remaining 1
- AutismHPOHP:0000717
- Very rare (1% to 4% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FTCDHGNC:3974
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Moderate · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: formiminoglutamic aciduria
- Also called
- formiminotransferase cyclodeaminase deficiencyFTCD deficiencyglutamate formiminotransferase deficiency