Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Glutamate formiminotransferase deficiency


Other Names for this Disease

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

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.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Glutamate formiminotransferase deficiency. We will answer your question and update these pages with new resources and information.

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

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