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Inborn metal metabolism disorder

MedGen UID:
6325
Concept ID:
C0025534
Disease or Syndrome
Synonyms: Metal Metabolism, Inborn Error; Metal Metabolism, Inborn Errors
 
Monarch Initiative: MONDO:0004689

Definition

An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. [from MONDO]

Professional guidelines

PubMed

Kowdley KV, Brown KE, Ahn J, Sundaram V
Am J Gastroenterol 2019 Aug;114(8):1202-1218. doi: 10.14309/ajg.0000000000000315. PMID: 31335359
Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC
Muscle Nerve 2018 Apr;57(4):522-530. Epub 2017 Nov 29 doi: 10.1002/mus.26009. PMID: 29125635Free PMC Article
Kwo PY, Cohen SM, Lim JK
Am J Gastroenterol 2017 Jan;112(1):18-35. Epub 2016 Dec 20 doi: 10.1038/ajg.2016.517. PMID: 27995906

Recent clinical studies

Etiology

Kane SF, Roberts C, Paulus R
Am Fam Physician 2021 Sep 1;104(3):263-270. PMID: 34523883
Kowdley KV, Brown KE, Ahn J, Sundaram V
Am J Gastroenterol 2019 Aug;114(8):1202-1218. doi: 10.14309/ajg.0000000000000315. PMID: 31335359
Linglart A, Levine MA, Jüppner H
Endocrinol Metab Clin North Am 2018 Dec;47(4):865-888. Epub 2018 Oct 12 doi: 10.1016/j.ecl.2018.07.011. PMID: 30390819Free PMC Article
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A
Nat Rev Endocrinol 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. PMID: 29959430Free PMC Article
Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL
J Bone Miner Res 2011 Jul;26(7):1381-8. Epub 2011 May 2 doi: 10.1002/jbmr.340. PMID: 21538511Free PMC Article

Diagnosis

Olynyk JK, Ramm GA
N Engl J Med 2022 Dec 8;387(23):2159-2170. doi: 10.1056/NEJMra2119758. PMID: 36477033
Mulligan C, Bronstein JM
Neurol Clin 2020 May;38(2):417-432. Epub 2020 Feb 28 doi: 10.1016/j.ncl.2020.01.005. PMID: 32279718
Murphree CR, Nguyen NN, Raghunathan V, Olson SR, DeLoughery T, Shatzel JJ
Vox Sang 2020 May;115(4):255-262. Epub 2020 Feb 20 doi: 10.1111/vox.12896. PMID: 32080859
Linglart A, Levine MA, Jüppner H
Endocrinol Metab Clin North Am 2018 Dec;47(4):865-888. Epub 2018 Oct 12 doi: 10.1016/j.ecl.2018.07.011. PMID: 30390819Free PMC Article
Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC
Muscle Nerve 2018 Apr;57(4):522-530. Epub 2017 Nov 29 doi: 10.1002/mus.26009. PMID: 29125635Free PMC Article

Therapy

Adams PC, Jeffrey G, Ryan J
Lancet 2023 May 27;401(10390):1811-1821. Epub 2023 Apr 27 doi: 10.1016/S0140-6736(23)00287-8. PMID: 37121243
Kowdley KV, Brown KE, Ahn J, Sundaram V
Am J Gastroenterol 2019 Aug;114(8):1202-1218. doi: 10.14309/ajg.0000000000000315. PMID: 31335359
Linglart A, Levine MA, Jüppner H
Endocrinol Metab Clin North Am 2018 Dec;47(4):865-888. Epub 2018 Oct 12 doi: 10.1016/j.ecl.2018.07.011. PMID: 30390819Free PMC Article
Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC
Muscle Nerve 2018 Apr;57(4):522-530. Epub 2017 Nov 29 doi: 10.1002/mus.26009. PMID: 29125635Free PMC Article
European Association for Study of Liver
J Hepatol 2012 Mar;56(3):671-85. doi: 10.1016/j.jhep.2011.11.007. PMID: 22340672

Prognosis

Xie JJ, Wu ZY
Neurosci Bull 2017 Jun;33(3):323-330. Epub 2017 Mar 6 doi: 10.1007/s12264-017-0107-4. PMID: 28265897Free PMC Article
Whyte MP
Bone 2017 Sep;102:15-25. Epub 2017 Feb 24 doi: 10.1016/j.bone.2017.02.011. PMID: 28238808
Whyte MP, Zhang F, Wenkert D, McAlister WH, Mack KE, Benigno MC, Coburn SP, Wagy S, Griffin DM, Ericson KL, Mumm S
Bone 2015 Jun;75:229-39. Epub 2015 Feb 27 doi: 10.1016/j.bone.2015.02.022. PMID: 25731960
Pietrangelo A
Gastroenterology 2010 Aug;139(2):393-408, 408.e1-2. Epub 2010 Jun 11 doi: 10.1053/j.gastro.2010.06.013. PMID: 20542038
Crawford DH, Leggett BA, Powell LW
Baillieres Clin Gastroenterol 1998 Jun;12(2):209-25. doi: 10.1016/s0950-3528(98)90131-2. PMID: 9890069

Clinical prediction guides

Shribman S, Poujois A, Bandmann O, Czlonkowska A, Warner TT
J Neurol Neurosurg Psychiatry 2021 Oct;92(10):1053-1061. Epub 2021 Aug 2 doi: 10.1136/jnnp-2021-326123. PMID: 34341141
Roemhild K, von Maltzahn F, Weiskirchen R, Knüchel R, von Stillfried S, Lammers T
Trends Pharmacol Sci 2021 Aug;42(8):640-656. Epub 2021 Jun 2 doi: 10.1016/j.tips.2021.05.001. PMID: 34090703Free PMC Article
Jüppner H
J Clin Endocrinol Metab 2021 May 13;106(6):1541-1552. doi: 10.1210/clinem/dgab060. PMID: 33529330Free PMC Article
Vimalraj S
Gene 2020 Sep 5;754:144855. Epub 2020 Jun 6 doi: 10.1016/j.gene.2020.144855. PMID: 32522695
Pietrangelo A
Gastroenterology 2010 Aug;139(2):393-408, 408.e1-2. Epub 2010 Jun 11 doi: 10.1053/j.gastro.2010.06.013. PMID: 20542038

Recent systematic reviews

Jiang S, Yang Y, Song A, Jiang Y, Jiang Y, Li M, Xia W, Nie M, Wang O, Xing X
Eur J Endocrinol 2023 Nov 8;189(5):S103-S111. doi: 10.1093/ejendo/lvad142. PMID: 37837607
Chevalier K, Obadia MA, Djebrani-Oussedik N, Poujois A
Mov Disord Clin Pract 2023 Sep;10(9):1306-1316. Epub 2023 Jun 22 doi: 10.1002/mdc3.13813. PMID: 37772303Free PMC Article
Wang S, Wang X, He M, Li Y, Xiao M, Ma H
J Clin Endocrinol Metab 2023 Dec 21;109(1):293-302. doi: 10.1210/clinem/dgad440. PMID: 37497620
De Feyter S, Beyens A, Callewaert B
J Inherit Metab Dis 2023 Mar;46(2):163-173. Epub 2023 Feb 3 doi: 10.1002/jimd.12590. PMID: 36692329
Vairo FPE, Chwal BC, Perini S, Ferreira MAP, de Freitas Lopes AC, Saute JAM
Mol Genet Metab 2019 Jan;126(1):6-13. Epub 2018 Dec 11 doi: 10.1016/j.ymgme.2018.12.005. PMID: 30594472

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