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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

Mondellini GM, Verbrugge FH
Curr Heart Fail Rep 2024 Jun;21(3):252-261. Epub 2024 Feb 27 doi: 10.1007/s11897-024-00651-3. PMID: 38411885
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
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
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

Touyz RM, de Baaij JHF, Hoenderop JGJ
N Engl J Med 2024 Jun 6;390(21):1998-2009. doi: 10.1056/NEJMra1510603. PMID: 38838313
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
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

Adomako EA, Yu ASL
Am J Kidney Dis 2024 Jun;83(6):803-815. Epub 2024 Feb 17 doi: 10.1053/j.ajkd.2023.10.017. PMID: 38372687
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

Prognosis

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
Vall-Palomar M, Madariaga L, Ariceta G
Pediatr Nephrol 2021 Oct;36(10):3045-3055. Epub 2021 Feb 17 doi: 10.1007/s00467-021-04968-2. PMID: 33595712
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
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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