Formiminotransferase deficiency syndrome associated with megaloblastic anemia responsive to pyridoxine or folic acid.
D000748:Anemia, Macrocytic / Q000150:complications* / Q000188:drug therapy; D001772:Blood Cell Count; D001856:Bone Marrow Examination; D014695:Cerebral Ventriculography; D004912:Erythrocytes / Q000201:enzymology; D005365:FIGLU Test; D005492:Folic Acid / Q000008:administration & dosage*; D006801:Humans; D007223:Infant; D007263:Infusions, Parenteral; D007273:Injections, Intramuscular; D008099:Liver / Q000201:enzymology / Q000473:pathology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications*; D011732:Pyridoxal Phosphate / Q000008:administration & dosage*; D013762:Tetrahydrofolate Dehydrogenase / Q000378:metabolism; D014166:Transferases / Q000378:metabolism*; D014364:Tryptophan
D011732:Pyridoxal Phosphate; D014364:Tryptophan; D005492:Folic Acid; D013762:Tetrahydrofolate Dehydrogenase; D014166:Transferases