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Disorder of magnesium transport

MedGen UID:
1842842
Concept ID:
C5681030
Disease or Syndrome
Synonyms: disorder of magnesium transport; inborn error of magnesium ion transport; inborn magnesium ion transport disorder; rare inborn error of magnesium ion transport
 
Monarch Initiative: MONDO:0017765
Orphanet: ORPHA309848

Definition

An inherited metabolic disease that is has its basis in the disruption of magnesium ion transport. [from MONDO]

Professional guidelines

PubMed

Ebell MH, Grad R
Am Fam Physician 2022 Jul;106(1):61-69. PMID: 35839363
Liamis G, Hoorn EJ, Florentin M, Milionis H
Pharmacol Res Perspect 2021 Aug;9(4):e00829. doi: 10.1002/prp2.829. PMID: 34278747Free PMC Article
Górska N, Słupski J, Szałach ŁP, Włodarczyk A, Szarmach J, Jakuszkowiak-Wojten K, Gałuszko-Węgielnik M, Wilkowska A, Wiglusz MS, Cubała WJ
Psychiatr Danub 2019 Sep;31(Suppl 3):549-553. PMID: 31488789

Recent clinical studies

Etiology

Guo MG, Reynolds DL, Ang CE, Liu Y, Zhao Y, Donohue LKH, Siprashvili Z, Yang X, Yoo Y, Mondal S, Hong A, Kain J, Meservey L, Fabo T, Elfaki I, Kellman LN, Abell NS, Pershad Y, Bayat V, Etminani P, Holodniy M, Geschwind DH, Montgomery SB, Duncan LE, Urban AE, Altman RB, Wernig M, Khavari PA
Nat Genet 2023 Nov;55(11):1876-1891. Epub 2023 Oct 19 doi: 10.1038/s41588-023-01533-5. PMID: 37857935Free PMC Article
Ding H, Li Y, Fang M, Chen J, Liu L, Lu Z, Hou J, Luo M
J Allergy Clin Immunol 2023 Jun;151(6):1622-1633.e10. Epub 2023 Apr 21 doi: 10.1016/j.jaci.2023.04.003. PMID: 37086924
Wolf MTF, Zhang J, Nie M
Curr Opin Nephrol Hypertens 2019 Sep;28(5):481-489. doi: 10.1097/MNH.0000000000000522. PMID: 31205055Free PMC Article
Tangvoraphonkchai K, Davenport A
Adv Chronic Kidney Dis 2018 May;25(3):251-260. doi: 10.1053/j.ackd.2018.02.010. PMID: 29793664
Knoers NV, Levtchenko EN
Orphanet J Rare Dis 2008 Jul 30;3:22. doi: 10.1186/1750-1172-3-22. PMID: 18667063Free PMC Article

Diagnosis

Liamis G, Hoorn EJ, Florentin M, Milionis H
Pharmacol Res Perspect 2021 Aug;9(4):e00829. doi: 10.1002/prp2.829. PMID: 34278747Free PMC Article
Daw CC, Ramachandran K, Enslow BT, Maity S, Bursic B, Novello MJ, Rubannelsonkumar CS, Mashal AH, Ravichandran J, Bakewell TM, Wang W, Li K, Madaris TR, Shannon CE, Norton L, Kandala S, Caplan J, Srikantan S, Stathopulos PB, Reeves WB, Madesh M
Cell 2020 Oct 15;183(2):474-489.e17. Epub 2020 Oct 8 doi: 10.1016/j.cell.2020.08.049. PMID: 33035451Free PMC Article
Blanchard A, Bockenhauer D, Bolignano D, Calò LA, Cosyns E, Devuyst O, Ellison DH, Karet Frankl FE, Knoers NV, Konrad M, Lin SH, Vargas-Poussou R
Kidney Int 2017 Jan;91(1):24-33. doi: 10.1016/j.kint.2016.09.046. PMID: 28003083
Loudon KW, Fry AC
Ann Clin Biochem 2014 Jul;51(Pt 4):441-58. Epub 2014 Mar 24 doi: 10.1177/0004563214531403. PMID: 24662008
Houston M
J Clin Hypertens (Greenwich) 2011 Nov;13(11):843-7. Epub 2011 Sep 26 doi: 10.1111/j.1751-7176.2011.00538.x. PMID: 22051430Free PMC Article

Therapy

Tardy AL, Pouteau E, Marquez D, Yilmaz C, Scholey A
Nutrients 2020 Jan 16;12(1) doi: 10.3390/nu12010228. PMID: 31963141Free PMC Article
Tangvoraphonkchai K, Davenport A
Adv Chronic Kidney Dis 2018 May;25(3):251-260. doi: 10.1053/j.ackd.2018.02.010. PMID: 29793664
Gröber U, Werner T, Vormann J, Kisters K
Nutrients 2017 Jul 28;9(8) doi: 10.3390/nu9080813. PMID: 28788060Free PMC Article
de Baaij JH, Hoenderop JG, Bindels RJ
Physiol Rev 2015 Jan;95(1):1-46. doi: 10.1152/physrev.00012.2014. PMID: 25540137
Houston M
J Clin Hypertens (Greenwich) 2011 Nov;13(11):843-7. Epub 2011 Sep 26 doi: 10.1111/j.1751-7176.2011.00538.x. PMID: 22051430Free PMC Article

Prognosis

Apetrii M, Covic A, Massy ZA
Semin Dial 2018 Jan;31(1):11-14. Epub 2017 Oct 23 doi: 10.1111/sdi.12653. PMID: 29063671
Blanchard A, Bockenhauer D, Bolignano D, Calò LA, Cosyns E, Devuyst O, Ellison DH, Karet Frankl FE, Knoers NV, Konrad M, Lin SH, Vargas-Poussou R
Kidney Int 2017 Jan;91(1):24-33. doi: 10.1016/j.kint.2016.09.046. PMID: 28003083
Wolf MT
Curr Opin Pediatr 2017 Apr;29(2):187-198. doi: 10.1097/MOP.0000000000000450. PMID: 27906866Free PMC Article
Blain PG
BMJ Clin Evid 2011 May 17;2011 PMID: 21575287Free PMC Article
Knoers NV, Levtchenko EN
Orphanet J Rare Dis 2008 Jul 30;3:22. doi: 10.1186/1750-1172-3-22. PMID: 18667063Free PMC Article

Clinical prediction guides

Ashok N, Khamar P, D'Souza S, Gijs M, Ghosh A, Sethu S, Shetty R
Indian J Ophthalmol 2023 Apr;71(4):1215-1226. doi: 10.4103/IJO.IJO_3020_22. PMID: 37026252Free PMC Article
Larsson SC, Gill D
Neurology 2021 Jul 27;97(4):e341-e344. Epub 2021 Jun 22 doi: 10.1212/WNL.0000000000012244. PMID: 34158381Free PMC Article
Tangvoraphonkchai K, Davenport A
Adv Chronic Kidney Dis 2018 May;25(3):251-260. doi: 10.1053/j.ackd.2018.02.010. PMID: 29793664
Blaszczyk U, Duda-Chodak A
Rocz Panstw Zakl Hig 2013;64(3):165-71. PMID: 24325082
Blain PG
BMJ Clin Evid 2011 May 17;2011 PMID: 21575287Free PMC Article

Recent systematic reviews

Ehrenpreis ED, Jarrouj G, Meader R, Wagner C, Ellis M
Dis Mon 2022 Feb;68(2):101285. Epub 2021 Sep 10 doi: 10.1016/j.disamonth.2021.101285. PMID: 34511254
Morais JBS, Severo JS, de Alencar GRR, de Oliveira ARS, Cruz KJC, Marreiro DDN, Freitas BJESA, de Carvalho CMR, Martins MDCCE, Frota KMG
Nutrition 2017 Jun;38:54-60. Epub 2017 Feb 2 doi: 10.1016/j.nut.2017.01.009. PMID: 28526383
Albuali WH
J Matern Fetal Neonatal Med 2014 Nov;27(17):1809-15. Epub 2014 Jan 30 doi: 10.3109/14767058.2013.876620. PMID: 24345031
Blain PG
BMJ Clin Evid 2011 May 17;2011 PMID: 21575287Free PMC Article
Eddleston M, Singh S, Buckley N
BMJ Clin Evid 2007 Mar 1;2007 PMID: 19454054Free PMC Article

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