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Abnormality of folate metabolism

MedGen UID:
868552
•Concept ID:
C4022951
•
Finding
HPO: HP:0012335

Definition

An abnormality of the metabolism of folic acid, which is also known as vitamin B9. [from HPO]

Professional guidelines

PubMed

Guideline No. 427: Folic Acid and Multivitamin Supplementation for Prevention of Folic Acid-Sensitive Congenital Anomalies.
Wilson RD, O'Connor DL
J Obstet Gynaecol Can 2022 Jun;44(6):707-719.e1. doi: 10.1016/j.jogc.2022.04.004. PMID: 35691683
Oral lichen planus - Differential diagnoses, serum autoantibodies, hematinic deficiencies, and management.
Chiang CP, Yu-Fong Chang J, Wang YP, Wu YH, Lu SY, Sun A
J Formos Med Assoc 2018 Sep;117(9):756-765. Epub 2018 Feb 19 doi: 10.1016/j.jfma.2018.01.021. PMID: 29472048
Recognition and Differential Diagnosis of Psychosis in Primary Care.
Griswold KS, Del Regno PA, Berger RC
Am Fam Physician 2015 Jun 15;91(12):856-63. PMID: 26131945

Recent clinical studies

Etiology

High Folate, Perturbed One-Carbon Metabolism and Gestational Diabetes Mellitus.
Williamson JM, Arthurs AL, Smith MD, Roberts CT, Jankovic-Karasoulos T
Nutrients 2022 Sep 22;14(19) doi: 10.3390/nu14193930. PMID: 36235580Free PMC Article
Folic acid versus 5- methyl tetrahydrofolate supplementation in pregnancy.
Ferrazzi E, Tiso G, Di Martino D
Eur J Obstet Gynecol Reprod Biol 2020 Oct;253:312-319. Epub 2020 Jun 13 doi: 10.1016/j.ejogrb.2020.06.012. PMID: 32868164
Folic acid and primary prevention of neural tube defects: A review.
van Gool JD, Hirche H, Lax H, De Schaepdrijver L
Reprod Toxicol 2018 Sep;80:73-84. Epub 2018 May 16 doi: 10.1016/j.reprotox.2018.05.004. PMID: 29777755
Nutritional role of folate.
Ebara S
Congenit Anom (Kyoto) 2017 Sep;57(5):138-141. Epub 2017 Jul 25 doi: 10.1111/cga.12233. PMID: 28603928
Effects of vitamin B12 and folate deficiency on brain development in children.
Black MM
Food Nutr Bull 2008 Jun;29(2 Suppl):S126-31. doi: 10.1177/15648265080292S117. PMID: 18709887Free PMC Article

Diagnosis

Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Oral lichen planus - Differential diagnoses, serum autoantibodies, hematinic deficiencies, and management.
Chiang CP, Yu-Fong Chang J, Wang YP, Wu YH, Lu SY, Sun A
J Formos Med Assoc 2018 Sep;117(9):756-765. Epub 2018 Feb 19 doi: 10.1016/j.jfma.2018.01.021. PMID: 29472048
Nutritional role of folate.
Ebara S
Congenit Anom (Kyoto) 2017 Sep;57(5):138-141. Epub 2017 Jul 25 doi: 10.1111/cga.12233. PMID: 28603928
Evaluation of macrocytosis.
Kaferle J, Strzoda CE
Am Fam Physician 2009 Feb 1;79(3):203-8. PMID: 19202968
Spina bifida.
Mitchell LE, Adzick NS, Melchionne J, Pasquariello PS, Sutton LN, Whitehead AS
Lancet 2004 Nov 20-26;364(9448):1885-95. doi: 10.1016/S0140-6736(04)17445-X. PMID: 15555669

Therapy

Folic acid and primary prevention of neural tube defects: A review.
van Gool JD, Hirche H, Lax H, De Schaepdrijver L
Reprod Toxicol 2018 Sep;80:73-84. Epub 2018 May 16 doi: 10.1016/j.reprotox.2018.05.004. PMID: 29777755
Nutritional role of folate.
Ebara S
Congenit Anom (Kyoto) 2017 Sep;57(5):138-141. Epub 2017 Jul 25 doi: 10.1111/cga.12233. PMID: 28603928
Risk factors for Down syndrome.
Coppedè F
Arch Toxicol 2016 Dec;90(12):2917-2929. Epub 2016 Sep 7 doi: 10.1007/s00204-016-1843-3. PMID: 27600794
Folate deficiency and folic acid supplementation: the prevention of neural-tube defects and congenital heart defects.
Czeizel AE, Dudás I, Vereczkey A, Bánhidy F
Nutrients 2013 Nov 21;5(11):4760-75. doi: 10.3390/nu5114760. PMID: 24284617Free PMC Article
Effects of vitamin B12 and folate deficiency on brain development in children.
Black MM
Food Nutr Bull 2008 Jun;29(2 Suppl):S126-31. doi: 10.1177/15648265080292S117. PMID: 18709887Free PMC Article

Prognosis

Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
More advantages in detecting bone and soft tissue metastases from prostate cancer using (18)F-PSMA PET/CT.
Pianou NK, Stavrou PZ, Vlontzou E, Rondogianni P, Exarhos DN, Datseris IE
Hell J Nucl Med 2019 Jan-Apr;22(1):6-9. Epub 2019 Mar 7 doi: 10.1967/s002449910952. PMID: 30843003
Folic acid supplementation for pregnant women and those planning pregnancy: 2015 update.
Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G
J Clin Pharmacol 2016 Feb;56(2):170-5. Epub 2015 Nov 5 doi: 10.1002/jcph.616. PMID: 26272218Free PMC Article
Recognition and Differential Diagnosis of Psychosis in Primary Care.
Griswold KS, Del Regno PA, Berger RC
Am Fam Physician 2015 Jun 15;91(12):856-63. PMID: 26131945
Evaluation of macrocytosis.
Kaferle J, Strzoda CE
Am Fam Physician 2009 Feb 1;79(3):203-8. PMID: 19202968

Clinical prediction guides

Guideline No. 427: Folic Acid and Multivitamin Supplementation for Prevention of Folic Acid-Sensitive Congenital Anomalies.
Wilson RD, O'Connor DL
J Obstet Gynaecol Can 2022 Jun;44(6):707-719.e1. doi: 10.1016/j.jogc.2022.04.004. PMID: 35691683
Methyl Donor Micronutrients that Modify DNA Methylation and Cancer Outcome.
Mahmoud AM, Ali MM
Nutrients 2019 Mar 13;11(3) doi: 10.3390/nu11030608. PMID: 30871166Free PMC Article
Folic acid supplementation for pregnant women and those planning pregnancy: 2015 update.
Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G
J Clin Pharmacol 2016 Feb;56(2):170-5. Epub 2015 Nov 5 doi: 10.1002/jcph.616. PMID: 26272218Free PMC Article
Folic acid and folinic acid for reducing side effects in patients receiving methotrexate for rheumatoid arthritis.
Shea B, Swinden MV, Tanjong Ghogomu E, Ortiz Z, Katchamart W, Rader T, Bombardier C, Wells GA, Tugwell P
Cochrane Database Syst Rev 2013 May 31;2013(5):CD000951. doi: 10.1002/14651858.CD000951.pub2. PMID: 23728635Free PMC Article
Evaluation of macrocytosis.
Kaferle J, Strzoda CE
Am Fam Physician 2009 Feb 1;79(3):203-8. PMID: 19202968

Recent systematic reviews

Folic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.
Crider K, Williams J, Qi YP, Gutman J, Yeung L, Mai C, Finkelstain J, Mehta S, Pons-Duran C, Menéndez C, Moraleda C, Rogers L, Daniels K, Green P
Cochrane Database Syst Rev 2022 Feb 1;2(2022) doi: 10.1002/14651858.CD014217. PMID: 36321557Free PMC Article
Micronutrient fortification of food and its impact on woman and child health: a systematic review.
Das JK, Salam RA, Kumar R, Bhutta ZA
Syst Rev 2013 Aug 23;2:67. doi: 10.1186/2046-4053-2-67. PMID: 23971426Free PMC Article
Folic acid and folinic acid for reducing side effects in patients receiving methotrexate for rheumatoid arthritis.
Shea B, Swinden MV, Tanjong Ghogomu E, Ortiz Z, Katchamart W, Rader T, Bombardier C, Wells GA, Tugwell P
Cochrane Database Syst Rev 2013 May 31;2013(5):CD000951. doi: 10.1002/14651858.CD000951.pub2. PMID: 23728635Free PMC Article
Folate intake, markers of folate status and oral clefts: is the evidence converging?
Johnson CY, Little J
Int J Epidemiol 2008 Oct;37(5):1041-58. Epub 2008 Jun 26 doi: 10.1093/ije/dyn098. PMID: 18583393
Preconception care: a systematic review.
Korenbrot CC, Steinberg A, Bender C, Newberry S
Matern Child Health J 2002 Jun;6(2):75-88. doi: 10.1023/a:1015460106832. PMID: 12092984

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