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formiminoglutamic aciduria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

formiminoglutamic aciduria

MONDO:0009240

Also known as:FTCD deficiencyformiminotransferase cyclodeaminase deficiencyglutamate formiminotransferase deficiency

Overview

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.

GeneticsAutosomal recessive · FTCD (chr 21)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Aminoaciduria, Megaloblastic anemia, Elevated urinary formiminoglutamic acid level, and Growth delay and 3 more.

Organ System	Phenotype Count	Example Features
Blood and immune system	2	Megaloblastic anemia, Hypersegmentation of neutrophil nuclei

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FTCD encodes formimidoyltransferase cyclodeaminase (541 aa). Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool

Formiminoglutamic aciduria is associated with mutations in the FTCD gene on chromosome 21.

The FTCD protein participates in N-formiminoglutamate + tetrahydrofolate = glutamate + 5-formiminotetrahydrofolate pathway.

FTCD is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for FTCD is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for formiminoglutamic aciduria.

2 publications have been identified in PubMed for formiminoglutamic aciduria. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Baheer Abdulwahhab S (2026). [PMID: 41868448](https://pubmed.ncbi.nlm.nih.gov/41868448/). *Cureus*. [Case Report / Case Series]
Huang XW (2026). [PMID: 41452423](https://pubmed.ncbi.nlm.nih.gov/41452423/). *World J Pediatr*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 6:44 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:229100

Orphanet

European rare disease database

Orphanet:51208

GARD

Genetic and Rare Diseases Info Center

GARD:9279

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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formiminoglutamic aciduria

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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