Formiminotransferase deficiency is an autosomal recessive disorder of folate metabolism. It is due to defects in the bifunctional enzyme glutamate formiminotransferase-cyclodeaminase (FTCD). Features of a severe phenotype include megaloblastic anemia and mental retardation. Features of a mild phenotype include mild developmental delay and no hematological abnormalities.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
Anaemias or other erythrocyte disorders
Nutritional or metabolic anaemias
3A02 Folate deficiency anaemia
H01262 Formiminotransferase deficiency
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Disorders of metabolite absorption or transport
5C63 Disorders of vitamin or non-protein cofactor absorption or transport
H01262 Formiminotransferase deficiency
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
nt06037 Histidine metabolism
H01262 Formiminotransferase deficiency
