Overview
Formiminoglutamic aciduria (also called FIGLU aciduria or glutamate formiminotransferase deficiency) is a very rare inherited metabolic disorder. It happens when the body cannot properly break down the amino acid histidine, which is a building block of protein found in food. This breakdown process normally requires an enzyme called glutamate formiminotransferase (also known as FTCD). When this enzyme does not work correctly, a substance called formiminoglutamic acid (FIGLU) builds up in the blood and spills into the urine. The condition affects the folate (vitamin B9) pathway in the body, which is important for making DNA, red blood cells, and supporting brain development. Because of this, some people with formiminoglutamic aciduria develop intellectual disability, delayed development, or problems with the nervous system. Others may have very mild symptoms or none at all, making the condition hard to recognize. Symptoms can range widely from person to person. Some individuals show signs in infancy or early childhood, while others are only identified through newborn screening or family testing. Treatment mainly focuses on managing symptoms and may include dietary adjustments and folate supplementation. There is currently no cure, but many affected individuals can live relatively stable lives with appropriate medical support.
Also known as:
Key symptoms:
Intellectual disability or learning difficultiesDelayed speech and language developmentDelayed motor milestones (such as sitting or walking later than expected)Elevated levels of formiminoglutamic acid (FIGLU) in the urineMegaloblastic anemia (large, abnormal red blood cells causing fatigue and paleness)Seizures in some casesBehavioral problemsPoor muscle tone (floppiness)Failure to thrive in infancyAbnormal folate metabolism shown on blood tests
Clinical phenotype terms (13)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Formiminoglutamic aciduria.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Formiminoglutamic aciduria at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Formiminoglutamic aciduria.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Formiminoglutamic aciduria.
Community
No community posts yet. Be the first to share your experience with Formiminoglutamic aciduria.
Start the conversation →Latest news about Formiminoglutamic aciduria
No recent news articles for Formiminoglutamic aciduria.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What level of FIGLU in my urine or blood confirms the diagnosis, and how will we monitor this over time?,Should I or my child take folic acid or folinic acid, and what dose is recommended?,Is a low-histidine diet necessary, and if so, can we work with a dietitian who specializes in metabolic disorders?,What developmental therapies would you recommend, and how soon should we start?,Should other family members be tested for this condition?,Are there any clinical trials or research studies we could participate in?,What warning signs should prompt an emergency visit, and is there an emergency protocol we should have ready?
Common questions about Formiminoglutamic aciduria
What is Formiminoglutamic aciduria?
Formiminoglutamic aciduria (also called FIGLU aciduria or glutamate formiminotransferase deficiency) is a very rare inherited metabolic disorder. It happens when the body cannot properly break down the amino acid histidine, which is a building block of protein found in food. This breakdown process normally requires an enzyme called glutamate formiminotransferase (also known as FTCD). When this enzyme does not work correctly, a substance called formiminoglutamic acid (FIGLU) builds up in the blood and spills into the urine. The condition affects the folate (vitamin B9) pathway in the body, whi
How is Formiminoglutamic aciduria inherited?
Formiminoglutamic aciduria follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.