U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
Schilsky ML
Clin Liver Dis 2017 Nov;21(4):755-767. Epub 2017 Aug 10 doi: 10.1016/j.cld.2017.06.011. PMID: 28987261

Recent clinical studies

Etiology

Kane SF, Roberts C, Paulus R
Am Fam Physician 2021 Sep 1;104(3):263-270. PMID: 34523883
Fernando M, van Mourik I, Wassmer E, Kelly D
Arch Dis Child 2020 May;105(5):499-505. Epub 2020 Jan 23 doi: 10.1136/archdischild-2018-315705. PMID: 31974298
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

Diagnosis

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
Fernando M, van Mourik I, Wassmer E, Kelly D
Arch Dis Child 2020 May;105(5):499-505. Epub 2020 Jan 23 doi: 10.1136/archdischild-2018-315705. PMID: 31974298
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

Aggarwal A, Bhatt M
Curr Opin Neurol 2020 Aug;33(4):534-542. doi: 10.1097/WCO.0000000000000837. PMID: 32657896
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
Linglart A, Biosse-Duplan M
Curr Osteoporos Rep 2016 Jun;14(3):95-105. doi: 10.1007/s11914-016-0309-0. PMID: 27084188

Prognosis

Villa-Suárez JM, García-Fontana C, Andújar-Vera F, González-Salvatierra S, de Haro-Muñoz T, Contreras-Bolívar V, García-Fontana B, Muñoz-Torres M
Int J Mol Sci 2021 Apr 21;22(9) doi: 10.3390/ijms22094303. PMID: 33919113Free PMC Article
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
Gulati V, Harikrishnan P, Palaniswamy C, Aronow WS, Jain D, Frishman WH
Cardiol Rev 2014 Mar-Apr;22(2):56-68. doi: 10.1097/CRD.0b013e3182a67805. PMID: 24503941
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

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
Mornet E
Metabolism 2018 May;82:142-155. Epub 2017 Sep 20 doi: 10.1016/j.metabol.2017.08.013. PMID: 28939177
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

Vilaca T, Velmurugan N, Smith C, Abrahamsen B, Eastell R
J Bone Miner Res 2022 Jun;37(6):1188-1199. Epub 2022 May 7 doi: 10.1002/jbmr.4558. PMID: 35426179Free PMC Article
Smith S, Remmington T
Cochrane Database Syst Rev 2021 Oct 7;10(10):CD004447. doi: 10.1002/14651858.CD004447.pub3. PMID: 34618915Free PMC Article
Ryan A, Nevitt SJ, Tuohy O, Cook P
Cochrane Database Syst Rev 2019 Nov 19;2019(11) doi: 10.1002/14651858.CD012267.pub2. PMID: 31743430Free 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
Socha P, Janczyk W, Dhawan A, Baumann U, D'Antiga L, Tanner S, Iorio R, Vajro P, Houwen R, Fischler B, Dezsofi A, Hadzic N, Hierro L, Jahnel J, McLin V, Nobili V, Smets F, Verkade HJ, Debray D
J Pediatr Gastroenterol Nutr 2018 Feb;66(2):334-344. doi: 10.1097/MPG.0000000000001787. PMID: 29341979

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...