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Diseases

Genetic and Rare Diseases Information Center (GARD)

Glutamate formiminotransferase deficiency


Other Names for this Disease
  • Formiminotransferase deficiency syndrome
  • Formiminoglutamicaciduria (FIGLU-uria)
  • Formiminoglutamic acidemia
  • Arakawa syndrome 1
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Overview

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 sever 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.
Last updated: 6/5/2012

References

  1. Glutamate formiminotransferase deficiency. Genetics Home Reference (GHR). August 2009; http://ghr.nlm.nih.gov/condition/glutamate-formiminotransferase-deficiency. Accessed 6/5/2012.
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Basic Information

  • 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.
Other Names for this Disease
  • Formiminotransferase deficiency syndrome
  • Formiminoglutamicaciduria (FIGLU-uria)
  • Formiminoglutamic acidemia
  • Arakawa syndrome 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.