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Abnormality of vitamin B metabolism

MedGen UID:: 867296
•Concept ID:: C4021659
•: Finding

Synonym:	Abnormality of B-vitamin metabolism

HPO:	HP:0004340

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormality of vitamin B metabolism

Phenotypic abnormality
- Abnormality of metabolism/homeostasis
  - Abnormal metabolism
    - Abnormality of vitamin metabolism
      - Abnormality of vitamin B metabolism
        Abnormal circulating vitamin B6 concentration
        Elevated circulating vitamin B6 concentration
        Reduced circulating vitamin B6 circulating
        Abnormality of folate metabolism
        Abnormal blood 5-methyltetrahydrofolate level
        Reduced blood 5-methyltetrahydrofolate level
        Abnormal blood folate concentration
        Increased blood folate concentration
        Reduced blood folate concentration
        Folate deficiency in CSF
        Impaired folate absorption
        Abnormality of the vitamin B3 metabolism
        Vitamin B3 deficiency
        Abnormality of vitamin B12 metabolism
        Abnormal circulating vitamin B12 concentration
        Cobalamin deficiency
        Decreased circulating adenosylcobalamin concentration
        Decreased circulating methylcobalamin concentration
        Elevated circulating vitamin B12 concentration
        Malabsorption of Vitamin B12
        Ariboflavinosis
        Maternal riboflavin deficiency
        Decreased circulating vitamin B1 concentration
        Decreased circulating vitamin B5 concentration
        Decreased circulating vitamin B8 concentration

Professional guidelines

PubMed

Dyslipidaemia in nephrotic syndrome: mechanisms and treatment.

Agrawal S, Zaritsky JJ, Fornoni A, Smoyer WE
Nat Rev Nephrol 2018 Jan;14(1):57-70. Epub 2017 Nov 27 doi: 10.1038/nrneph.2017.155. PMID: 29176657 Free PMC Article

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA
J Inherit Metab Dis 2017 Jan;40(1):49-74. Epub 2016 Oct 24 doi: 10.1007/s10545-016-9979-0. PMID: 27778219 Free PMC Article

Inositol as putative integrative treatment for PCOS.

Genazzani AD
Reprod Biomed Online 2016 Dec;33(6):770-780. Epub 2016 Sep 16 doi: 10.1016/j.rbmo.2016.08.024. PMID: 27717596

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Recent clinical studies

Etiology

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

Down syndrome--genetic and nutritional aspects of accompanying disorders.

Mazurek D, Wyka J
Rocz Panstw Zakl Hig 2015;66(3):189-94. PMID: 26400113

Vitamin B12 in health and disease.

O'Leary F, Samman S
Nutrients 2010 Mar;2(3):299-316. Epub 2010 Mar 5 doi: 10.3390/nu2030299. PMID: 22254022 Free PMC Article

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Diagnosis

Vitamin B12 deficiency: case report and review of literature.

Hasbaoui BE, Mebrouk N, Saghir S, Yajouri AE, Abilkassem R, Agadr A
Pan Afr Med J 2021;38:237. Epub 2021 Mar 4 doi: 10.11604/pamj.2021.38.237.20967. PMID: 34046142 Free PMC Article

Vitamin B(12) deficiency.

Green R, Allen LH, Bjørke-Monsen AL, Brito A, Guéant JL, Miller JW, Molloy AM, Nexo E, Stabler S, Toh BH, Ueland PM, Yajnik C
Nat Rev Dis Primers 2017 Jun 29;3:17040. doi: 10.1038/nrdp.2017.40. PMID: 28660890

Down syndrome--genetic and nutritional aspects of accompanying disorders.

Mazurek D, Wyka J
Rocz Panstw Zakl Hig 2015;66(3):189-94. PMID: 26400113

Vitamin B12 deficiency - A 21st century perspective .

Shipton MJ, Thachil J
Clin Med (Lond) 2015 Apr;15(2):145-50. doi: 10.7861/clinmedicine.15-2-145. PMID: 25824066 Free PMC Article

The pathophysiology of elevated vitamin B12 in clinical practice.

Andrès E, Serraj K, Zhu J, Vermorken AJ
QJM 2013 Jun;106(6):505-15. Epub 2013 Feb 27 doi: 10.1093/qjmed/hct051. PMID: 23447660

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Therapy

Homocysteine - from disease biomarker to disease prevention.

Smith AD, Refsum H
J Intern Med 2021 Oct;290(4):826-854. Epub 2021 Apr 6 doi: 10.1111/joim.13279. PMID: 33660358

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

Inositol as putative integrative treatment for PCOS.

Genazzani AD
Reprod Biomed Online 2016 Dec;33(6):770-780. Epub 2016 Sep 16 doi: 10.1016/j.rbmo.2016.08.024. PMID: 27717596

Vitamins and type 2 diabetes mellitus.

Valdés-Ramos R, Guadarrama-López AL, Martínez-Carrillo BE, Benítez-Arciniega AD
Endocr Metab Immune Disord Drug Targets 2015;15(1):54-63. doi: 10.2174/1871530314666141111103217. PMID: 25388747 Free PMC Article

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Prognosis

Vitamin B12 deficiency: case report and review of literature.

Hasbaoui BE, Mebrouk N, Saghir S, Yajouri AE, Abilkassem R, Agadr A
Pan Afr Med J 2021;38:237. Epub 2021 Mar 4 doi: 10.11604/pamj.2021.38.237.20967. PMID: 34046142 Free PMC Article

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: 26272218 Free PMC Article

The pathophysiology of elevated vitamin B12 in clinical practice.

Andrès E, Serraj K, Zhu J, Vermorken AJ
QJM 2013 Jun;106(6):505-15. Epub 2013 Feb 27 doi: 10.1093/qjmed/hct051. PMID: 23447660

Evaluation of macrocytosis.

Kaferle J, Strzoda CE
Am Fam Physician 2009 Feb 1;79(3):203-8. PMID: 19202968

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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: 30871166 Free PMC Article

MTHFR isoform carriers. 5-MTHF (5-methyl tetrahydrofolate) vs folic acid: a key to pregnancy outcome: a case series.

Servy EJ, Jacquesson-Fournols L, Cohen M, Menezo YJR
J Assist Reprod Genet 2018 Aug;35(8):1431-1435. Epub 2018 Jun 7 doi: 10.1007/s10815-018-1225-2. PMID: 29882091 Free 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: 26272218 Free PMC Article

Evaluation of macrocytosis.

Kaferle J, Strzoda CE
Am Fam Physician 2009 Feb 1;79(3):203-8. PMID: 19202968

See all (853)

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: 36321557 Free PMC Article

Nutraceuticals and polycystic ovary syndrome: a systematic review of the literature.

Menichini D, Ughetti C, Monari F, Di Vinci PL, Neri I, Facchinetti F
Gynecol Endocrinol 2022 Aug;38(8):623-631. Epub 2022 Jun 17 doi: 10.1080/09513590.2022.2089106. PMID: 35713558

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

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: 23971426 Free 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: 23728635 Free PMC Article

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Abnormality of vitamin B metabolism

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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Practice guidelines

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