Living with Glutamate formiminotransferase deficiency
A rare inherited condition that can affect development; some people have only mild problems and others have none.
Understanding Glutamate formiminotransferase deficiency
Researchers once described a mild form and a severe form. Some people diagnosed as infants don't appear to have any related health problems, and researchers are still learning about the condition. Signs have ranged from mild developmental delay with high levels of a molecule called FIGLU in the urine, to more severe intellectual disability and megaloblastic anemia, in which red blood cells are low in number and larger than normal. It is usually noticed in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these as less common:
- Delayed speech and language
- Intellectual disability
- Megaloblastic anemia (low, enlarged red blood cells)
- Autism
- A hole between the upper heart chambers
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists and genetic specialists.
- 3Consider genetic testing
Changes in FTCD are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the FTCD gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: arakawa syndrome 1; deficiency of glutamate formiminotransferase; deficiency of glutamate formyltransferase; figluria; formiminoglutamic aciduria; formiminotransferase cyclodeaminase deficiency
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Glutamate formiminotransferase deficiency.
Explore research for Glutamate formiminotransferase deficiency
Explore actively recruiting Glutamate formiminotransferase deficiency studies with HealthSpark.
Find actively recruiting studies for Glutamate formiminotransferase deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Glutamate formiminotransferase deficiency studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Glutamate formiminotransferase deficiency
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Glutamate formiminotransferase deficiency experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.