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GTR Home > Conditions/Phenotypes > Glutamate formiminotransferase deficiency

Glutamate formiminotransferase deficiency

Synonyms
Arakawa syndrome 1; Formiminoglutamic acidemia; Formiminoglutamic aciduria; Formiminoglutamicaciduria (FIGLU-uria); Formiminotransferase Deficiency; Formiminotransferase deficiency syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Glutamate formiminotransferase deficiency is an autosomal recessive disorder and the second most common inborn error of folate metabolism. Features of a severe phenotype include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and mental retardation. Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematologic abnormalities (summary by Hilton et al., 2003). [from OMIM]

Available tests

10 tests are in the database for this condition.

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Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LCHC1, FTCD
    Summary: formimidoyltransferase cyclodeaminase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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