Glutamate formiminotransferase deficiency
Other Names for this Disease
- Arakawa syndrome 1
- Formiminoglutamic acidemia
- Formiminoglutamic aciduria
- Formiminoglutamicaciduria (FIGLU-uria)
- Formiminotransferase cyclodeaminase deficiency
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Tests & Diagnosis
- 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.
- The Newborn Screening Coding and Terminology Guide created by the National Library of Medicine (NLM) at the National Institutes of Health (NIH) promotes and facilitates the use of electronic health data standards in recording and transmitting newborn screening test results. The Web site includes standard codes and terminology for newborn tests and conditions for which they screen, and links to related sites. Click on the link to view details for this condition.