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Abnormality of vitamin metabolism

MedGen UID:
867647
•Concept ID:
C4022036
•
Finding
HPO: HP:0100508

Definition

An anomaly in the metabolism of a vitamin. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of vitamin metabolism

Professional guidelines

PubMed

Non-alcoholic fatty liver disease (NAFLD): a review of pathophysiology, clinical management and effects of weight loss.
Pouwels S, Sakran N, Graham Y, Leal A, Pintar T, Yang W, Kassir R, Singhal R, Mahawar K, Ramnarain D
BMC Endocr Disord 2022 Mar 14;22(1):63. doi: 10.1186/s12902-022-00980-1. PMID: 35287643Free PMC Article
Chronic Kidney Disease Diagnosis and Management: A Review.
Chen TK, Knicely DH, Grams ME
JAMA 2019 Oct 1;322(13):1294-1304. doi: 10.1001/jama.2019.14745. PMID: 31573641Free PMC Article
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article

Recent clinical studies

Etiology

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
Vitamin D Deficiency, Its Role in Health and Disease, and Current Supplementation Recommendations.
Pfotenhauer KM, Shubrook JH
J Am Osteopath Assoc 2017 May 1;117(5):301-305. doi: 10.7556/jaoa.2017.055. PMID: 28459478
Down syndrome--genetic and nutritional aspects of accompanying disorders.
Mazurek D, Wyka J
Rocz Panstw Zakl Hig 2015;66(3):189-94. PMID: 26400113
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: 25388747Free PMC Article

Diagnosis

Polycystic Ovarian Syndrome.
Shrivastava S, Conigliaro RL
Med Clin North Am 2023 Mar;107(2):227-234. Epub 2022 Dec 26 doi: 10.1016/j.mcna.2022.10.004. PMID: 36759093
Menopause-Associated Lipid Metabolic Disorders and Foods Beneficial for Postmenopausal Women.
Ko SH, Kim HS
Nutrients 2020 Jan 13;12(1) doi: 10.3390/nu12010202. PMID: 31941004Free PMC Article
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article
Vitamin D Deficiency, Its Role in Health and Disease, and Current Supplementation Recommendations.
Pfotenhauer KM, Shubrook JH
J Am Osteopath Assoc 2017 May 1;117(5):301-305. doi: 10.7556/jaoa.2017.055. PMID: 28459478
Down syndrome--genetic and nutritional aspects of accompanying disorders.
Mazurek D, Wyka J
Rocz Panstw Zakl Hig 2015;66(3):189-94. PMID: 26400113

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
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
Vitamin D Deficiency, Its Role in Health and Disease, and Current Supplementation Recommendations.
Pfotenhauer KM, Shubrook JH
J Am Osteopath Assoc 2017 May 1;117(5):301-305. doi: 10.7556/jaoa.2017.055. PMID: 28459478
Riboflavin and health: A review of recent human research.
Thakur K, Tomar SK, Singh AK, Mandal S, Arora S
Crit Rev Food Sci Nutr 2017 Nov 22;57(17):3650-3660. doi: 10.1080/10408398.2016.1145104. PMID: 27029320
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: 25388747Free PMC Article

Prognosis

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
Cobalamin C defect: natural history, pathophysiology, and treatment.
Martinelli D, Deodato F, Dionisi-Vici C
J Inherit Metab Dis 2011 Feb;34(1):127-35. Epub 2010 Jul 15 doi: 10.1007/s10545-010-9161-z. PMID: 20632110
Hyperparathyroidism.
Fraser WD
Lancet 2009 Jul 11;374(9684):145-58. doi: 10.1016/S0140-6736(09)60507-9. PMID: 19595349
Vitamin neurotoxicity.
Snodgrass SR
Mol Neurobiol 1992 Spring;6(1):41-73. doi: 10.1007/BF02935566. PMID: 1463588
Drug-induced anaemias.
Girdwood RH
Drugs 1976;11(5):394-404. doi: 10.2165/00003495-197611050-00003. PMID: 782836

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
Metabolic alterations in multiple sclerosis and the impact of vitamin D supplementation.
Bhargava P, Fitzgerald KC, Calabresi PA, Mowry EM
JCI Insight 2017 Oct 5;2(19) doi: 10.1172/jci.insight.95302. PMID: 28978801Free 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
Evaluation of macrocytosis.
Kaferle J, Strzoda CE
Am Fam Physician 2009 Feb 1;79(3):203-8. PMID: 19202968
Vitamin neurotoxicity.
Snodgrass SR
Mol Neurobiol 1992 Spring;6(1):41-73. doi: 10.1007/BF02935566. PMID: 1463588

Recent systematic reviews

Osteoporosis in Patients with Chronic Kidney Diseases: A Systemic Review.
Hsu CY, Chen LR, Chen KH
Int J Mol Sci 2020 Sep 18;21(18) doi: 10.3390/ijms21186846. PMID: 32961953Free PMC Article
Comorbidities in alopecia areata: A systematic review and meta-analysis.
Lee S, Lee H, Lee CH, Lee WS
J Am Acad Dermatol 2019 Feb;80(2):466-477.e16. Epub 2018 Jul 18 doi: 10.1016/j.jaad.2018.07.013. PMID: 30031145
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: 27778219Free PMC Article
Role of vitamin D in ovarian physiology and its implication in reproduction: a systematic review.
Irani M, Merhi Z
Fertil Steril 2014 Aug;102(2):460-468.e3. Epub 2014 Jun 3 doi: 10.1016/j.fertnstert.2014.04.046. PMID: 24933120
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

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