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Disorder of other vitamins and cofactors metabolism and transport

MedGen UID:
831846
•Concept ID:
CN227204
•
Disease or Syndrome
Synonym: disorder of other vitamins and cofactors metabolism and transport
 
Monarch Initiative: MONDO:0017760
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
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

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
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

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

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
Wholly Rickettsia! Reconstructed Metabolic Profile of the Quintessential Bacterial Parasite of Eukaryotic Cells.
Driscoll TP, Verhoeve VI, Guillotte ML, Lehman SS, Rennoll SA, Beier-Sexton M, Rahman MS, Azad AF, Gillespie JJ
mBio 2017 Sep 26;8(5) doi: 10.1128/mBio.00859-17. PMID: 28951473Free PMC Article

Clinical prediction guides

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
Clostridium scindens ATCC 35704: Integration of Nutritional Requirements, the Complete Genome Sequence, and Global Transcriptional Responses to Bile Acids.
Devendran S, Shrestha R, Alves JMP, Wolf PG, Ly L, Hernandez AG, Méndez-García C, Inboden A, Wiley J, Paul O, Allen A, Springer E, Wright CL, Fields CJ, Daniel SL, Ridlon JM
Appl Environ Microbiol 2019 Apr 1;85(7) Epub 2019 Mar 22 doi: 10.1128/AEM.00052-19. PMID: 30737348Free PMC Article
Wholly Rickettsia! Reconstructed Metabolic Profile of the Quintessential Bacterial Parasite of Eukaryotic Cells.
Driscoll TP, Verhoeve VI, Guillotte ML, Lehman SS, Rennoll SA, Beier-Sexton M, Rahman MS, Azad AF, Gillespie JJ
mBio 2017 Sep 26;8(5) doi: 10.1128/mBio.00859-17. PMID: 28951473Free PMC Article
Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.
Dobson CM, Gradinger A, Longo N, Wu X, Leclerc D, Lerner-Ellis J, Lemieux M, Belair C, Watkins D, Rosenblatt DS, Gravel RA
Mol Genet Metab 2006 Aug;88(4):327-33. Epub 2006 May 11 doi: 10.1016/j.ymgme.2006.03.009. PMID: 16697227

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