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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
Haffner D, Emma F, Eastwood DM, Biosse Duplan M, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free 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

Kang C
Drugs 2021 Jun;81(8):953-956. doi: 10.1007/s40265-021-01520-2. PMID: 33909276
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
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
Van Dop C, Bourne HR
Annu Rev Med 1983;34:259-66. doi: 10.1146/annurev.me.34.020183.001355. PMID: 6344759

Diagnosis

Palmer WC, Stancampiano FF
Ann Intern Med 2025 Feb;178(2):ITC17-ITC32. Epub 2025 Feb 11 doi: 10.7326/ANNALS-24-03710. PMID: 39928951
Olynyk JK, Ramm GA
N Engl J Med 2022 Dec 8;387(23):2159-2170. doi: 10.1056/NEJMra2119758. PMID: 36477033
Cabrera E, Crespo G, VanWagner LB
JAMA 2022 Nov 8;328(18):1862-1863. doi: 10.1001/jama.2022.17727. PMID: 36346422Free PMC Article
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
Whitington PF
Semin Liver Dis 2012 Nov;32(4):325-32. Epub 2013 Feb 8 doi: 10.1055/s-0032-1329901. PMID: 23397533

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
Atwal PS, Scaglia F
Mol Genet Metab 2016 Jan;117(1):1-4. Epub 2015 Nov 25 doi: 10.1016/j.ymgme.2015.11.010. PMID: 26653176
Hoffmann G
Vet Clin North Am Small Anim Pract 2009 May;39(3):489-511. doi: 10.1016/j.cvsm.2009.02.001. PMID: 19524791

Prognosis

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
Knisely AS, Mieli-Vergani G, Whitington PF
Gastroenterol Clin North Am 2003 Sep;32(3):877-89, vi-vii. doi: 10.1016/s0889-8553(03)00050-5. PMID: 14562579
Powell LW, Yapp TR
Clin Liver Dis 2000 Feb;4(1):211-28, viii. doi: 10.1016/s1089-3261(05)70104-5. PMID: 11232185
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
Chiu MK, Davey AM
Clin Pediatr (Phila) 1997 Oct;36(10):607-10. doi: 10.1177/000992289703601012. PMID: 9336684

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
Vimalraj S
Gene 2020 Sep 5;754:144855. Epub 2020 Jun 6 doi: 10.1016/j.gene.2020.144855. PMID: 32522695
Briot K, Roux C
Arch Pediatr 2017 May;24(5S2):5S71-5S73. doi: 10.1016/S0929-693X(18)30018-6. PMID: 29405936
Schumacher HR Jr
Baillieres Best Pract Res Clin Rheumatol 2000 Jun;14(2):277-84. doi: 10.1053/berh.2000.0065. PMID: 10925745

Recent systematic reviews

Prabhu A, Cargill T, Roberts N, Ryan JD
Hepatology 2020 Oct;72(4):1469-1482. doi: 10.1002/hep.31405. PMID: 32500577
Ignacio KHD, Bagnas MAC, Espiritu AI, Reyes JPBT
J Clin Neurosci 2019 Dec;70:254-257. Epub 2019 Aug 19 doi: 10.1016/j.jocn.2019.08.063. PMID: 31439490
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
Buzzetti E, Parikh PM, Gerussi A, Tsochatzis E
Pharmacol Res 2017 Jun;120:97-108. Epub 2017 Mar 20 doi: 10.1016/j.phrs.2017.03.014. PMID: 28336373
de Graaff B, Neil A, Sanderson K, Si L, Yee KC, Palmer AJ
Appl Health Econ Health Policy 2015 Oct;13(5):469-83. doi: 10.1007/s40258-015-0189-y. PMID: 26255179

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