Megaloblastic anemia and mental retardation associated with hyperfolic-acidemia: probably due to N5 methyltetrahydrofolate transferase deficiency.
D000328:Adult; D000368:Aged; D000748:Anemia, Macrocytic / Q000209:etiology*; D001681:Biological Assay; D001798:Blood Proteins / Q000032:analysis; D001856:Bone Marrow Examination; D014695:Cerebral Ventriculography; D002648:Child; D002675:Child, Preschool; D004041:Dietary Fats / Q000378:metabolism; D004569:Electroencephalography; D004912:Erythrocytes / Q000032:analysis / Q000201:enzymology; D005365:FIGLU Test; D005260:Female; D005492:Folic Acid / Q000097:blood / Q000378:metabolism* / Q000627:therapeutic use; D006801:Humans; D006867:Hydrolases / Q000378:metabolism; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology*; D007408:Intestinal Absorption; D008099:Liver / Q000201:enzymology; D008111:Liver Function Tests; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications*; D008875:Middle Aged; D010088:Oxidoreductases / Q000378:metabolism; D014166:Transferases / Q000378:metabolism*; D014805:Vitamin B 12 / Q000097:blood; D014994:Xylose
D001798:Blood Proteins; D004041:Dietary Fats; D005492:Folic Acid; D014994:Xylose; D010088:Oxidoreductases; D014166:Transferases; D006867:Hydrolases; D014805:Vitamin B 12