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Disorder of other vitamins and cofactors metabolism and transport

MedGen UID:
1842660
•Concept ID:
C5681036
•
Disease or Syndrome
Orphanet: ORPHA309833

Professional guidelines

PubMed

The evolution and treatment of Korsakoff's syndrome: out of sight, out of mind?
Thomson AD, Guerrini I, Marshall EJ
Neuropsychol Rev 2012 Jun;22(2):81-92. Epub 2012 May 9 doi: 10.1007/s11065-012-9196-z. PMID: 22569770Free PMC Article
Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10).
Horvath R
J Inherit Metab Dis 2012 Jul;35(4):679-87. Epub 2012 Jan 10 doi: 10.1007/s10545-011-9434-1. PMID: 22231380
Electron transfer mediators and other metabolites and cofactors in the treatment of mitochondrial dysfunction.
Orsucci D, Filosto M, Siciliano G, Mancuso M
Nutr Rev 2009 Aug;67(8):427-38. doi: 10.1111/j.1753-4887.2009.00221.x. PMID: 19674340

Recent clinical studies

Etiology

Refractory Helicobacter pylori infection and the gastric microbiota.
Liu D, Wang J, Xie Y
Front Cell Infect Microbiol 2022;12:976710. Epub 2022 Sep 27 doi: 10.3389/fcimb.2022.976710. PMID: 36237432Free PMC Article
Riboflavin in Neurological Diseases: A Narrative Review.
Plantone D, Pardini M, Rinaldi G
Clin Drug Investig 2021 Jun;41(6):513-527. Epub 2021 Apr 22 doi: 10.1007/s40261-021-01038-1. PMID: 33886098
Vitamin B(12) status in health and disease: a critical review. Diagnosis of deficiency and insufficiency - clinical and laboratory pitfalls.
Sobczyńska-Malefora A, Delvin E, McCaddon A, Ahmadi KR, Harrington DJ
Crit Rev Clin Lab Sci 2021 Sep;58(6):399-429. Epub 2021 Apr 21 doi: 10.1080/10408363.2021.1885339. PMID: 33881359
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
Sperl W, Fleuren L, Freisinger P, Haack TB, Ribes A, Feichtinger RG, Rodenburg RJ, Zimmermann FA, Koch J, Rivera I, Prokisch H, Smeitink JA, Mayr JA
J Inherit Metab Dis 2015 May;38(3):391-403. Epub 2014 Dec 20 doi: 10.1007/s10545-014-9787-3. PMID: 25526709
The tinker, tailor, soldier in intracellular B12 trafficking.
Banerjee R, Gherasim C, Padovani D
Curr Opin Chem Biol 2009 Oct;13(4):484-91. Epub 2009 Aug 7 doi: 10.1016/j.cbpa.2009.07.007. PMID: 19665918Free PMC Article

Diagnosis

Riboflavin in Neurological Diseases: A Narrative Review.
Plantone D, Pardini M, Rinaldi G
Clin Drug Investig 2021 Jun;41(6):513-527. Epub 2021 Apr 22 doi: 10.1007/s40261-021-01038-1. PMID: 33886098
Vitamin B(12) status in health and disease: a critical review. Diagnosis of deficiency and insufficiency - clinical and laboratory pitfalls.
Sobczyńska-Malefora A, Delvin E, McCaddon A, Ahmadi KR, Harrington DJ
Crit Rev Clin Lab Sci 2021 Sep;58(6):399-429. Epub 2021 Apr 21 doi: 10.1080/10408363.2021.1885339. PMID: 33881359
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
Sperl W, Fleuren L, Freisinger P, Haack TB, Ribes A, Feichtinger RG, Rodenburg RJ, Zimmermann FA, Koch J, Rivera I, Prokisch H, Smeitink JA, Mayr JA
J Inherit Metab Dis 2015 May;38(3):391-403. Epub 2014 Dec 20 doi: 10.1007/s10545-014-9787-3. PMID: 25526709
Leukoencephalopathies associated with disorders of cobalamin and folate metabolism.
Wilcken B
Semin Neurol 2012 Feb;32(1):68-74. Epub 2012 Mar 15 doi: 10.1055/s-0032-1306389. PMID: 22422209
Regulation of vitamin C transport.
Wilson JX
Annu Rev Nutr 2005;25:105-25. doi: 10.1146/annurev.nutr.25.050304.092647. PMID: 16011461

Therapy

Refractory Helicobacter pylori infection and the gastric microbiota.
Liu D, Wang J, Xie Y
Front Cell Infect Microbiol 2022;12:976710. Epub 2022 Sep 27 doi: 10.3389/fcimb.2022.976710. PMID: 36237432Free PMC Article
Riboflavin in Neurological Diseases: A Narrative Review.
Plantone D, Pardini M, Rinaldi G
Clin Drug Investig 2021 Jun;41(6):513-527. Epub 2021 Apr 22 doi: 10.1007/s40261-021-01038-1. PMID: 33886098
Friedreich Ataxia: current state-of-the-art, and future prospects for mitochondrial-focused therapies.
Pallardó FV, Pagano G, Rodríguez LR, Gonzalez-Cabo P, Lyakhovich A, Trifuoggi M
Transl Res 2021 Mar;229:135-141. Epub 2020 Aug 22 doi: 10.1016/j.trsl.2020.08.009. PMID: 32841735
Ascorbic Acid Route to the Endoplasmic Reticulum: Function and Role in Disease.
Pozzer D, Invernizzi RW, Blaauw B, Cantoni O, Zito E
Antioxid Redox Signal 2021 Apr 10;34(11):845-855. Epub 2020 Jan 22 doi: 10.1089/ars.2019.7912. PMID: 31867990
Electron transfer mediators and other metabolites and cofactors in the treatment of mitochondrial dysfunction.
Orsucci D, Filosto M, Siciliano G, Mancuso M
Nutr Rev 2009 Aug;67(8):427-38. doi: 10.1111/j.1753-4887.2009.00221.x. PMID: 19674340

Prognosis

Characterization of disease-associated microbiota in hepatocellular carcinoma.
Sun P, Li Z, Zhang B
J Cancer Res Ther 2023 Aug;19(4):881-891. doi: 10.4103/jcrt.jcrt_139_22. PMID: 37675712
Prediction and validation of microbial community function from normal pulp to pulpitis caused by deep dentinal caries.
Liu Y, Wang J, Dong B, Zhai Y, Zhou L, Sun S, Li X, Wu L
Int Endod J 2023 May;56(5):608-621. Epub 2023 Jan 31 doi: 10.1111/iej.13890. PMID: 36648366
Refractory Helicobacter pylori infection and the gastric microbiota.
Liu D, Wang J, Xie Y
Front Cell Infect Microbiol 2022;12:976710. Epub 2022 Sep 27 doi: 10.3389/fcimb.2022.976710. PMID: 36237432Free PMC Article
Riboflavin in Neurological Diseases: A Narrative Review.
Plantone D, Pardini M, Rinaldi G
Clin Drug Investig 2021 Jun;41(6):513-527. Epub 2021 Apr 22 doi: 10.1007/s40261-021-01038-1. PMID: 33886098
Friedreich Ataxia: current state-of-the-art, and future prospects for mitochondrial-focused therapies.
Pallardó FV, Pagano G, Rodríguez LR, Gonzalez-Cabo P, Lyakhovich A, Trifuoggi M
Transl Res 2021 Mar;229:135-141. Epub 2020 Aug 22 doi: 10.1016/j.trsl.2020.08.009. PMID: 32841735

Clinical prediction guides

Non-significant influence between aerobic and anaerobic sample transport materials on gut (fecal) microbiota in healthy and fat-metabolic disorder Thai adults.
Tunsakul N, Wongsaroj L, Janchot K, Pongpirul K, Somboonna N
PeerJ 2024;12:e17270. Epub 2024 Apr 19 doi: 10.7717/peerj.17270. PMID: 38650647Free PMC Article
Characterization of disease-associated microbiota in hepatocellular carcinoma.
Sun P, Li Z, Zhang B
J Cancer Res Ther 2023 Aug;19(4):881-891. doi: 10.4103/jcrt.jcrt_139_22. PMID: 37675712
FRET-based probe for ratiometric detection and imaging of folic acid in real-time.
Irfan, Soleja N, Mohsin M
Anal Biochem 2023 Oct 15;679:115285. Epub 2023 Aug 14 doi: 10.1016/j.ab.2023.115285. PMID: 37586674
Prediction and validation of microbial community function from normal pulp to pulpitis caused by deep dentinal caries.
Liu Y, Wang J, Dong B, Zhai Y, Zhou L, Sun S, Li X, Wu L
Int Endod J 2023 May;56(5):608-621. Epub 2023 Jan 31 doi: 10.1111/iej.13890. PMID: 36648366
Refractory Helicobacter pylori infection and the gastric microbiota.
Liu D, Wang J, Xie Y
Front Cell Infect Microbiol 2022;12:976710. Epub 2022 Sep 27 doi: 10.3389/fcimb.2022.976710. PMID: 36237432Free PMC Article

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