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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

Cabrera E, Crespo G, VanWagner LB
JAMA 2022 Nov 8;328(18):1862-1863. doi: 10.1001/jama.2022.17727. PMID: 36346422
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
Kerkar N, Rana A
Clin Liver Dis 2022 Aug;26(3):473-488. Epub 2022 Jun 25 doi: 10.1016/j.cld.2022.03.008. PMID: 35868686
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

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
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
Mornet E
Orphanet J Rare Dis 2007 Oct 4;2:40. doi: 10.1186/1750-1172-2-40. PMID: 17916236Free PMC Article
Powell LW, Yapp TR
Clin Liver Dis 2000 Feb;4(1):211-28, viii. doi: 10.1016/s1089-3261(05)70104-5. PMID: 11232185

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

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
Smith S, Remmington T
Cochrane Database Syst Rev 2021 Oct 7;10(10):CD004447. doi: 10.1002/14651858.CD004447.pub3. PMID: 34618915Free PMC Article
Kong X, Xie L, Zhu H, Song L, Xing X, Yang W, Chen X
Orphanet J Rare Dis 2019 Jul 8;14(1):171. doi: 10.1186/s13023-019-1097-2. PMID: 31286966Free PMC Article
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

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