National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Glutamate formiminotransferase deficiency


Other Names:
Formiminotransferase deficiency syndrome; Formiminoglutamicaciduria (FIGLU-uria); Formiminoglutamic acidemia; Formiminotransferase deficiency syndrome; Formiminoglutamicaciduria (FIGLU-uria); Formiminoglutamic acidemia; Arakawa syndrome 1 See More
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Glutamate formiminotransferase deficiency is an inherited metabolic disorder that affects physical and mental development. There are two forms of this condition, a mild form and a severe form. People with the mild form have minor delays in physical and mental development and may have mild intellectual disability. They also have unusually high levels of a molecule called formiminoglutamate (FIGLU) in their urine. Individuals with the severe form have profound intellectual disability, delayed development of motor skills (sitting, standing, and walking) and megaloblastic anemia. In addition to FIGLU in their urine, they have elevated amounts of certain B vitamins (called folates) in their blood. Glutamate formiminotransferase deficiency is caused by mutations in the FTCD gene. It is inherited in an autosomal recessive pattern. There are currently no treatments known to prevent or delay the signs and symptoms of glutamate formiminotransferase deficiency.[1]
Last updated: 8/10/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Aminoaciduria
High urine amino acid levels
Increased levels of animo acids in urine
[ more ] 		0003355
Autosomal recessive inheritance 0000007
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] 		0001510
Hypersegmentation of neutrophil nuclei 0004821
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Megaloblastic anemia 0001889
Positive ferric chloride test 0003612
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Newborn Screening

  • The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Glutamate formiminotransferase deficiency. This website is maintained by the National Library of Medicine.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Glutamate formiminotransferase deficiency. Click on the link to view a sample search on this topic.

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  1. Formiminoglutamic Acidemia. Baby's First Test. 2016; http://www.babysfirsttest.org/newborn-screening/conditions/formiminoglutamic-acidemia.
  2. Glutamate formiminotransferase deficiency. Genetics Home Reference (GHR). August 2009; http://ghr.nlm.nih.gov/condition/glutamate-formiminotransferase-deficiency.