glutamate formiminotransferase deficiency

Term ID

DOID:0111679

Synonyms

• Arakawa syndrome 1
• FIGLUria
• formiminoglutamic acidemia
• formiminoglutamic aciduria
• formiminotransferase cyclodeaminase deficiency
• formiminotransferase deficiency syndrome
• FTCD deficiency

Definition

A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chromosome 21q22.3. (2)

References

• GARD:9279
• MESH:C537425
• OMIM:229100
• ORDO:51208
• SNOMEDCT_US_2023_03_01:59761008
• UMLS_CUI:C0268609

Ontology

Human Disease   ( DOID:0111679 )