Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: a case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy.
D045103:5,10-Methylenetetrahydrofolate Reductase (FADH2); D000429:Alcohol Oxidoreductases / Q000172:deficiency*; D000596:Amino Acids / Q000097:blood; D004359:Drug Therapy, Combination; D005260:Female; D005492:Folic Acid / Q000032:analysis; D006712:Homocystinuria / Q000188:drug therapy* / Q000209:etiology; D006801:Humans; D007223:Infant; D002955:Leucovorin / Q000008:administration & dosage*; D008715:Methionine / Q000008:administration & dosage*; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D011736:Pyridoxine / Q000008:administration & dosage*; D012867:Skin / Q000032:analysis; D013763:Tetrahydrofolates / Q000172:deficiency; D014805:Vitamin B 12 / Q000008:administration & dosage*
D000596:Amino Acids; D013763:Tetrahydrofolates; D005492:Folic Acid; D008715:Methionine; D000429:Alcohol Oxidoreductases; D045103:5,10-Methylenetetrahydrofolate Reductase (FADH2); D042965:Methylenetetrahydrofolate Reductase (NADPH2); D011736:Pyridoxine; D014805:Vitamin B 12; D002955:Leucovorin