ORPHA:51208
Formiminoglutamic aciduria
Also known as: FTCD deficiency · Formiminotransferase cyclodeaminase deficiency · Glutamate formiminotransferase deficiency
Clinical definition (Orphanet)
A rare disorder of folate metabolism and transport characterized, biochemically, by elevated formiminoglutamate in urine and plasma due to glutamate formiminotransferase deficiency, associated with a highly variable clinical , ranging from , and anemia to normal development without anemia. Increased hydantoin-5-propionic acid and/or folate in plasma may also be associated.
How rare: How common this is has not been clearly measured.
Is anyone studying this?
67
67 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
67 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
37 in the last 10 years · high confidence · 49.5th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (FTCD).
GenCC classification: Definitive.
Who's working on it?
430
Distinct author names in 67 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Ruijter GJG4 papers · 2023
Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus University Medical Center, Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands.
Papers in Europe PMC - 02Blom HJ3 papers · 2023
Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus University Medical Center, Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands.
Papers in Europe PMC - 03Bongaerts M3 papers · 2023
Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus University Medical Center, Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands.
Papers in Europe PMC - 04Bonte R3 papers · 2023
Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus University Medical Center, Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands.
Papers in Europe PMC - 05Rosenblatt DS3 papers · 2012Papers in Europe PMC
- 06Yang C3 papers · 2023
Department of Urology, Zhongshan Hospital, Fudan University, Shanghai, China.
Papers in Europe PMC - 07Baerlocher K2 papers · 1976Papers in Europe PMC
- 08de la Luna S2 papers · 2003Papers in Europe PMC
- 09Demirdas S2 papers · 2020
Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus University Medical Center, Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands.
Papers in Europe PMC - 10Engelke UFH2 papers · 2023
Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Formiminoglutamic aciduria" OR "FTCD deficiency" OR "Formiminotransferase cyclodeaminase deficiency" OR "Glutamate formiminotransferase deficiency"
MeSH descriptor terms unioned into the query: Glutamate formiminotransferase deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Formiminoglutamic aciduria" OR "FTCD deficiency" OR "Formiminotransferase cyclodeaminase deficiency" OR "Glutamate formiminotransferase deficiency" OR "FTCD"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C537425 OMIM:229100 UMLS:C0268609
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus