Folate deficiency

Pfeiffer CM, Sternberg MR, Zhang M, et al. Folate status in the US population 20 y after the introduction of folic acid fortification. Am J Clin Nutr. 2019 Nov 1;110(5):1088-97.Full text  Abstract

Wickramasinghe SN. Diagnosis of megaloblastic anaemias. Blood Rev. 2006 Nov;20(6):299-318. Abstract

Allen LH. Causes of vitamin B12 and folate deficiency. Food Nutr Bull. 2008 Jun;29(2 suppl):S20-34. Abstract

Whitehead VM. Acquired and inherited disorders of cobalamin and folate in children. Br J Haematol. 2006 Jul;134(2):125-36.Full text  Abstract

MRC Vitamin Study Research Group. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet. 1991 Jul 20;338(8760):131-7. Abstract

Institute of Medicine. Dietary reference intakes for thiamine, riboflavin, niacin, vitamin B6, folate, vitamin B12, pantothenic acid, biotin, and choline. Washington, DC: National Academy Press; 1998.

1. Herbert V. Experimental nutritional folate deficiency in man. Trans Assoc Am Physicians. 1962;75:307-20. Abstract

2. Aslinia F, Mazza JJ, Yale SH. Megaloblastic anemia and other causes of macrocytosis. Clin Med Res. 2006 Sep;4(3):236-41.Full text  Abstract

3. McLean E, de Benoist B, Allen LH. Review of the magnitude of folate and vitamin B12 deficiencies worldwide. Food Nutr Bull. 2008 Jun;29(2 suppl):S38-51. Abstract

4. Metz J. Haematological implications of folate food fortification. S Afr Med J. 2013 Oct 11;103(12 Suppl 1):978-81. Abstract

5. Rogers LM, Cordero AM, Pfeiffer CM, et al. Global folate status in women of reproductive age: a systematic review with emphasis on methodological issues. Ann N Y Acad Sci. 2018 Nov;1431(1):35-57.Full text  Abstract

6. Pfeiffer CM, Sternberg MR, Zhang M, et al. Folate status in the US population 20 y after the introduction of folic acid fortification. Am J Clin Nutr. 2019 Nov 1;110(5):1088-97.Full text  Abstract

7. Colapinto CK, O'Connor DL, Tremblay MS. Folate status of the population in the Canadian Health Measures Survey. CMAJ. 2011 Feb 8;183(2):E100-6.Full text  Abstract

8. Wickramasinghe SN. Diagnosis of megaloblastic anaemias. Blood Rev. 2006 Nov;20(6):299-318. Abstract

9. Allen LH. Causes of vitamin B12 and folate deficiency. Food Nutr Bull. 2008 Jun;29(2 suppl):S20-34. Abstract

10. Whitehead VM. Acquired and inherited disorders of cobalamin and folate in children. Br J Haematol. 2006 Jul;134(2):125-36.Full text  Abstract

11. Shane B. Folate and vitamin B12 metabolism: overview and interaction with riboflavin, vitamin B6, and polymorphisms. Food Nutr Bull. 2008 Jun;29(suppl 2):S5-16. Abstract

12. Fan J, Ye J, Kamphorst JJ, et al. Quantitative flux analysis reveals folate-dependent NADPH production. Nature. 2014 Jun 12;510(7504):298-302.Full text  Abstract

13. Nazki FH, Sameer AS, Ganaie BA. Folate: metabolism, genes, polymorphisms and the associated diseases. Gene. 2014 Jan 1;533(1):11-20. Abstract

14. Koury MJ. Abnormal erythropoiesis and the pathophysiology of chronic anemia. Blood Rev. 2014 Mar;28(2):49-66. Abstract

15. MRC Vitamin Study Research Group. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet. 1991 Jul 20;338(8760):131-7. Abstract

16. Wallingford JB, Niswander LA, Shaw GM, et al. The continuing challenge of understanding, preventing, and treating neural tube defects. Science. 2013 Mar 1;339(6123):1222002.Full text  Abstract

17. van Gool JD, Hirche H, Lax H, et al. Folic acid and primary prevention of neural tube defects: a review. Reprod Toxicol. 2018 Sep;80:73-84. Abstract

18. Joubert BR, den Dekker HT, Felix JF, et al. Maternal plasma folate impacts differential DNA methylation in an epigenome-wide meta-analysis of newborns. Nat Commun. 2016 Feb 10;7:10577.Full text  Abstract

19. Jacques PF, Selhub J, Bostom AG, et al. The effect of folic acid fortification on plasma folate and total homocysteine concentrations. N Engl J Med. 1999 May 13;340(19):1449-54.Full text  Abstract

20. Crider KS, Bailey LB, Berry RJ. Folic acid food fortification - its history, effect, concerns, and future directions. Nutrients. 2011 Mar;3(3):370-84.Full text  Abstract

21. Odewole OA, Williamson RS, Zakai NA, et al. Near-elimination of folate-deficiency anemia by mandatory folic acid fortification in older US adults: Reasons for Geographic and Racial Differences in Stroke study 2003-2007. Am J Clin Nutr. 2013 Oct;98(4):1042-7.Full text  Abstract

22. Keats EC, Neufeld LM, Garrett GS, et al. Improved micronutrient status and health outcomes in low- and middle-income countries following large-scale fortification: evidence from a systematic review and meta-analysis. Am J Clin Nutr. 2019 Jun 1;109(6):1696-708.Full text  Abstract

23. Htet MK, Fahmida U, Thurnham DI, et al. Folate and vitamin B12 status and dietary intake of anaemic adolescent schoolgirls in the delta region of Myanmar. Br J Nutr. 2015 Jul;116(suppl 1):S36-41. Abstract

24. Institute of Medicine. Dietary reference intakes for thiamine, riboflavin, niacin, vitamin B6, folate, vitamin B12, pantothenic acid, biotin, and choline. Washington, DC: National Academy Press; 1998.

25. Gloria L, Cravo M, Camilo ME, et al. Nutritional deficiencies in chronic alcoholics: relation to dietary intake and alcohol consumption. Am J Gastroenterol. 1997 Mar;92(3):485-9. Abstract

26. Medici V, Peerson JM, Stabler SP, et al. Impaired homocysteine transsulfuration is an indicator of alcoholic liver disease. J Hepatol. 2010 Sep;53(3):551-7.Full text  Abstract

27. Mackey AD, Picciano MF. Maternal folate status during extended lactation and the effect of supplemental folic acid. Am J Clin Nutr. 1999 Feb;69(2):285-92.Full text  Abstract

28. Goh YI, Koren G. Folic acid in pregnancy and fetal outcomes. J Obstet Gynaecol. 2008 Jan;28(1):3-13. Abstract

29. Beaudin AE, Stover PJ. Insights into metabolic mechanisms underlying folate-responsive neural tube defects: a minireview. Birth Defects Res A Clin Mol Teratol. 2009 Apr;85(4):274-84. Abstract

30. Ramakrishnan U, Grant F, Goldenberg T, et al. Effect of women's nutrition before and during early pregnancy on maternal and infant outcomes: a systematic review. Paediatr Perinat Epidemiol. 2012 Jul;26(suppl 1):285-301. Abstract

31. Wilson RD, Audibert F, Brock JA, et al; Genetics Committee. Pre-conception folic acid and multivitamin supplementation for the primary and secondary prevention of neural tube defects and other folic acid-sensitive congenital anomalies. J Obstet Gynaecol Can. 2015 Jun;37(6):534-52.Full text  Abstract

32. US Preventive Services Task Force, Barry MJ, Nicholson WK, et al. Folic acid supplementation to prevent neural tube defects: US Preventive Services Task Force reaffirmation recommendation statement. JAMA. 2023 Aug 1;330(5):454-9.Full text  Abstract

33. Public Health England. Folic acid: updated SACN recommendations. Jul 2017 [internet publication].Full text

34. Ek J, Magnus EM. Plasma and red blood cell folate in breastfed infants. Acta Paediatr Scand. 1979 Mar;68(2):239-43. Abstract

35. Klein CJ. Nutrient requirements for preterm infant formulas. J Nutr. 2002 Jun;132(6 Suppl 1):1395S-577S. Abstract

36. Jyothi S, Misra I, Morris G, et al. Red cell folate and plasma homocysteine in preterm infants. Neonatology. 2007;92(4):264-8. Abstract

37. Carmel R. Megaloblastic anemias: disorders of impaired DNA synthesis. In: Greer JP, Foerster J, Lukens JN, et al, eds. Wintrobe's clinical hematology. 11th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2004:1372-482.

38. Bledsoe AC, King KS, Larson JJ, et al. Micronutrient deficiencies are common in contemporary celiac disease despite lack of overt malabsorption symptoms. Mayo Clin Proc. 2019 Jul;94(7):1253-60. Abstract

39. Wani NA, Hamid A, Kaur J. Folate status in various pathophysiological conditions. IUBMB Life. 2008 Dec;60(12):834-42. Abstract

40. Czeizel AE, Dudás I. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med. 1992 Dec 24;327(26):1832-5.Full text  Abstract

41. Cordero AM, Crider KS, Rogers LM, et al. Optimal serum and red blood cell folate concentrations in women of reproductive age for prevention of neural tube defects: World Health Organization guidelines. MMWR Morb Mortal Wkly Rep. 2015 Apr 24;64(15):421-3.Full text  Abstract

42. Chen MY, Rose CE, Qi YP, et al. Defining the plasma folate concentration associated with the red blood cell folate concentration threshold for optimal neural tube defects prevention: a population-based, randomized trial of folic acid supplementation. Am J Clin Nutr. 2019 May 1;109(5):1452-61.Full text  Abstract

43. Crider KS, Devine O, Hao L, et al. Population red blood cell folate concentrations for prevention of neural tube defects: Bayesian model. BMJ. 2014 Jul 29;349:g4554.Full text  Abstract

44. Obeid R, Schön C, Wilhelm M, et al. The effectiveness of daily supplementation with 400 or 800 µg/day folate in reaching protective red blood folate concentrations in non-pregnant women: a randomized trial. Eur J Nutr. 2018 Aug;57(5):1771-80.Full text  Abstract

45. Lassi ZS, Salam RA, Haider BA, et al. Folic acid supplementation during pregnancy for maternal health and pregnancy outcomes. Cochrane Database Syst Rev. 2013 Mar 28;(3):CD006896.Full text  Abstract

46. Balogun OO, da Silva Lopes K, Ota E, et al. Vitamin supplementation for preventing miscarriage. Cochrane Database Syst Rev. 2016 May 6;(5):CD004073.Full text  Abstract

47. Bulloch RE, Wall CR, Thompson JMD, et al. Folic acid supplementation is associated with size at birth in the Screening for Pregnancy Endpoints (SCOPE) international prospective cohort study. Early Hum Dev. 2020 Aug;147:105058. Abstract

48. Keats EC, Haider BA, Tam E, et al. Multiple-micronutrient supplementation for women during pregnancy. Cochrane Database Syst Rev. 2019 Mar 14;(3):CD004905.Full text  Abstract

49. Scaglione F, Panzavolta G. Folate, folic acid and 5-methyltetrahydrofolate are not the same thing. Xenobiotica. 2014 May;44(5):480-8. Abstract

50. Liu L, Liu S, Wang C, et al. Folate supplementation for methotrexate therapy in patients with rheumatoid arthritis: a systematic review. J Clin Rheumatol. 2019 Aug;25(5):197-202. Abstract

51. Lin Y, Dueker SR, Follett JR, et al. Quantitation of in vivo human folate metabolism. Am J Clin Nutr. 2004 Sep;80(3):680-91.Full text  Abstract

52. Green R. Indicators for assessing folate and vitamin B12 status and for monitoring the efficacy of intervention strategies. Food Nutr Bull. 2008 Jun;29(2 suppl):S52-63. Abstract

53. Galloway M, Rushworth L. Red cell or serum folate? Results from the National Pathology Alliance benchmarking review. J Clin Pathol. 2003 Dec;56(12):924-6.Full text  Abstract

54. Devalia V, Hamilton MS, Molloy AM; British Committee for Standards in Haematology. Guidelines for the diagnosis and treatment of cobalamin and folate disorders. Br J Haematol. 2014 Aug;166(4):496-513.Full text  Abstract

55. Savage DG, Lindenbaum J, Stabler SP, et al. Sensitivity of serum methylmalonic acid and total homocysteine determinations for diagnosing cobalamin and folate deficiencies. Am J Med. 1994 Mar;96(3):239-46. Abstract

56. Selhub J, Jacques PF, Dallal G, et al. The use of blood concentrations of vitamins and their respective functional indicators to define folate and vitamin B12 status. Food Nutr Bull. 2008 Jun;29(2 suppl):S67-73. Abstract

57. Hussein WI, Green R, Jacobsen DW, et al. Normalization of hyperhomocysteinemia with L-thyroxine in hypothyroidism. Ann Intern Med. 1999 Sep 7;131(5):348-51. Abstract

58. Lawson DH, Murray RM, Parker JL. Early mortality in the megaloblastic anaemias. Q J Med. 1972 Jan;41(161):1-14. Abstract

59. Dixit R, Nettem S, Madan SS, et al. Folate supplementation in people with sickle cell disease. Cochrane Database Syst Rev. 2018 Mar 16;(3):CD011130.Full text  Abstract

60. Cordero JF, Do A, Berry RJ. Review of interventions for the prevention and control of folate and vitamin B12 deficiencies. Food Nutr Bull. 2008 Jun;29(2 suppl):S188-95. Abstract

61. Perry TL, Applegarth DA, Evans ME, et al. Metabolic studies of a family with massive formiminoglutamic aciduria. Pediatr Res. 1975 Mar;9(3):117-22. Abstract

62. Russel A, Statter M, Abzug S. Methionine-dependent formiminoglutamic acid transferase deficiency: human and experimental studies in its therapy. Hum Hered. 1977;27:205.

63. Zittoun J. Congenital errors of folate metabolism. Baillieres Clin Haematol. 1995 Sep;8(3):603-16. Abstract

64. Ramaekers VT, Sequeira JM, Quadros EV. The basis for folinic acid treatment in neuro-psychiatric disorders. Biochimie. 2016 Jul;126:79-90. Abstract

65. Stover PJ, Durga J, Field MS. Folate nutrition and blood-brain barrier dysfunction. Curr Opin Biotechnol. 2017 Apr;44:146-52.Full text  Abstract

66. Snow CF. Laboratory diagnosis of vitamin B12 and folate deficiency: a guide for the primary care physician. Arch Intern Med. 1999 Jun 28;159(12):1289-98.Full text  Abstract

67. Patel A, Chanarin I. Restoration of normal red cell size after treatment in megaloblastic anaemia. Br J Haematol. 1975 May;30(1):57-63. Abstract

68. National Institute for Health and Care Excellence. Clinical knowledge summaries. Anaemia - B12 and folate deficiency. Jul 2020 [internet publication].Full text

69. Shaw GM, Yang W, Finnell RH. Male-to-female ratios among NTDs and women's periconceptional intake of folic acid. Birth Defects Res. 2020 Oct;112(16):1187-93. Abstract

70. Liu J, Xie J, Li Z, et al. Sex differences in the prevalence of neural tube defects and preventive effects of folic acid (FA) supplementation among five counties in northern China: results from a population-based birth defect surveillance programme. BMJ Open. 2018 Nov 8;8(11):e022565.Full text  Abstract

71. McNulty H, Rollins M, Cassidy T, et al. Effect of continued folic acid supplementation beyond the first trimester of pregnancy on cognitive performance in the child: a follow-up study from a randomized controlled trial (FASSTT Offspring Trial). BMC Med. 2019 Oct 31;17(1):196.Full text  Abstract

72. Nathan DG, Orkin SH, Ginsburg D, et al, eds. Nathan and Oski's hematology of infancy and childhood. 6th ed. Oxford, UK: WB Saunders; 2003:447.

73. National Institute for Health and Care Excellence. Antenatal care for uncomplicated pregnancies. Feb 2019 [internet publication].Full text

74. National Institute for Health and Care Excellence. BNF for children treatment summaries. Anaemia, megaloblastic. 2019 [internet publication].Full text

75. Selhub J. Public health significance of elevated homocysteine. Food Nutr Bull. 2008 Jun;29(suppl 2):S116-25. Abstract

76. Carmel R, Green R, Rosenblatt DS, et al. Update on cobalamin, folate, and homocysteine. Hematology Am Soc Hematol Educ Program. 2003;2003:62-81.Full text  Abstract

77. American Academy of Family Physicians. Summary of recommendations for clinical preventive services. Jul 2017 [internet publication].Full text

78. Mei W, Rong Y, Jinming L, et al. Effect of homocysteine interventions on the risk of cardiocerebrovascular events: a meta-analysis of randomised controlled trials. Int J Clin Pract. 2010 Jan;64(2):208-15. Abstract

79. Smith AD, Kim YI, Refsum H. Is folic acid good for everyone? Am J Clin Nutr. 2008 Mar;87(3):517-33.Full text  Abstract

80. Mason JB, Dickstein A, Jacques PF, et al. A temporal association between folic acid fortification and an increase in colorectal cancer rates may be illuminating important biological principles: a hypothesis. Cancer Epidemiol Biomarkers Prev. 2007 Jul;16(7):1325-9.Full text  Abstract

81. Wien TN, Pike E, Wisløff T, et al. Cancer risk with folic acid supplements: a systematic review and meta-analysis. BMJ Open. 2012 Jan 12;2(1):e000653.Full text  Abstract

82. Heine-Bröring RC, Winkels RM, Renkema JM, et al. Dietary supplement use and colorectal cancer risk: a systematic review and meta-analyses of prospective cohort studies. Int J Cancer. 2015 May 15;136(10):2388-401.Full text  Abstract

83. Moazzen S, Dolatkhah R, Tabrizi JS, et al. Folic acid intake and folate status and colorectal cancer risk: a systematic review and meta-analysis. Clin Nutr. 2018 Dec;37(6 pt a):1926-34. Abstract

84. Ross JF, Belding H, Paegel BL. The development and progression of subacute combined degeneration of the spinal cord in patients with pernicious anemia treated with synthetic pteroylglutamic (folic) acid. Blood. 1948 Jan;3(1):68-90. Abstract

85. Reynolds EH. What is the safe upper intake level of folic acid for the nervous system? Implications for folic acid fortification policies. Eur J Clin Nutr. 2016 May;70(5):537-40. Abstract

86. Patel KR, Sobczyńska-Malefora A. The adverse effects of an excessive folic acid intake. Eur J Clin Nutr. 2017 Feb;71(2):159-63. Abstract

87. Ch'ien LT, Krumdieck CL, Scott CW Jr, et al. Harmful effect of megadoses of vitamins: electroencephalogram abnormalities and seizures induced by intravenous folate in drug-treated epileptics. Am J Clin Nutr. 1975 Jan;28(1):51-8. Abstract

88. Selhub J, Rosenberg IH. Excessive folic acid intake and relation to adverse health outcome. Biochimie. 2016 Jul;126:71-8. Abstract

89. Mudryj AN, de Groh M, Aukema HM, et al. Folate intakes from diet and supplements may place certain Canadians at risk for folic acid toxicity. Br J Nutr. 2016 Oct;116(7):1236-45. Abstract

90. Raghavan R, Riley AW, Volk H, et al. Maternal multivitamin intake, plasma folate and vitamin B12; levels and autism spectrum disorder risk in offspring. Paediatr Perinat Epidemiol. 2018 Jan;32(1):100-11.Full text  Abstract

91. Mulenga M, Malunga P, Bennett S, et al. Folic acid treatment of Zambian children with moderate to severe malaria anemia. Am J Trop Med Hyg. 2006 Jun;74(6):986-90.Full text  Abstract

92. Ouma P, Parise ME, Hamel MJ, et al. A randomized controlled trial of folate supplementation when treating malaria in pregnancy with sulfadoxine-pyrimethamine. PLoS Clin Trials. 2006 Oct 20;1(6):e28.Full text  Abstract

93. van Eijk AM, Ouma PO, Williamson J, et al. Plasma folate level and high-dose folate supplementation predict sulfadoxine-pyrimethamine treatment failure in pregnant women in western Kenya who have uncomplicated malaria. J Infect Dis. 2008 Nov 15;198(10):1550-3.Full text  Abstract

94. Belbasis L, Köhler CA, Stefanis N, et al. Risk factors and peripheral biomarkers for schizophrenia spectrum disorders: an umbrella review of meta-analyses. Acta Psychiatr Scand. 2018 Feb;137(2):88-97. Abstract

95. Firth J, Carney R, Stubbs B, et al. Nutritional deficiencies and clinical correlates in first-episode psychosis: a systematic review and meta-analysis. Schizophr Bull. 2018 Oct 17;44(6):1275-92.Full text  Abstract

96. Roffman JL, Lamberti JS, Achtyes E, et al. Randomized multicenter investigation of folate plus vitamin B12 supplementation in schizophrenia. JAMA Psychiatry. 2013 May;70(5):481-9.Full text  Abstract

97. Selhub J, Rosenberg IH. Public health significance of supplementation or fortification of grain products with folic acid. Food Nutr Bull. 2008 Jun;29(2 suppl):S173-6. Abstract