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Metal Metabolism, Inborn Errors

MedGen UID:
6325
Concept ID:
C0025534
Disease or Syndrome
Synonyms: Metal Metabolism, Inborn Error
 

Definition

Dysfunctions in the metabolism of metals resulting from inborn genetic mutations that are inherited or acquired in utero. [from MeSH]

Recent clinical studies

Etiology

Isaksson HS, Farkas SA, Müller P, Gustafsson D, Nilsson TK
Clin Exp Immunol 2018 Feb;191(2):240-251. Epub 2017 Nov 3 doi: 10.1111/cei.13064. PMID: 28984903Free PMC Article
Aslan D
Pediatr Blood Cancer 2018 Feb;65(2) Epub 2017 Sep 12 doi: 10.1002/pbc.26789. PMID: 28895280
Belelli E, Passarelli C, Pardeo M, Holzinger D, De Benedetti F, Insalaco A
Clin Exp Rheumatol 2017 Nov-Dec;35 Suppl 108(6):113-115. Epub 2017 Jun 19 PMID: 28628471
Lalioti V, Tsubota A, Sandoval IV
Semin Liver Dis 2017 May;37(2):175-188. Epub 2017 May 31 doi: 10.1055/s-0037-1602764. PMID: 28564725
Itsumura N, Inamo Y, Okazaki F, Teranishi F, Narita H, Kambe T, Kodama H
PLoS One 2013;8(5):e64045. Epub 2013 May 31 doi: 10.1371/journal.pone.0064045. PMID: 23741301Free PMC Article

Diagnosis

Rodan LH, Hauptman M, D'Gama AM, Qualls AE, Cao S, Tuschl K, Al-Jasmi F, Hertecant J, Hayflick SJ, Wessling-Resnick M, Yang ET, Berry GT, Gropman A, Woolf AD, Agrawal PB
Mol Genet Metab 2018 Jun;124(2):161-167. Epub 2018 Apr 6 doi: 10.1016/j.ymgme.2018.04.002. PMID: 29685658Free PMC Article
Mayr SJ, Sass JO, Vry J, Kirschner J, Mader I, Hövener JB, Reiss J, Santamaria-Araujo JA, Schwarz G, Grünert SC
J Inherit Metab Dis 2018 Mar;41(2):187-196. Epub 2018 Jan 24 doi: 10.1007/s10545-018-0138-7. PMID: 29368224
Belelli E, Passarelli C, Pardeo M, Holzinger D, De Benedetti F, Insalaco A
Clin Exp Rheumatol 2017 Nov-Dec;35 Suppl 108(6):113-115. Epub 2017 Jun 19 PMID: 28628471
Quadri M, Kamate M, Sharma S, Olgiati S, Graafland J, Breedveld GJ, Kori I, Hattiholi V, Jain P, Aneja S, Kumar A, Gulati P, Goel M, Talukdar B, Bonifati V
Mov Disord 2015 Jun;30(7):996-1001. Epub 2015 Mar 17 doi: 10.1002/mds.26202. PMID: 25778823
Beaumont-Epinette MP, Delobel JB, Ropert M, Deugnier Y, Loréal O, Jouanolle AM, Brissot P, Bardou-Jacquet E
Blood Cells Mol Dis 2015 Feb;54(2):151-4. Epub 2014 Nov 26 doi: 10.1016/j.bcmd.2014.11.020. PMID: 25486930

Therapy

Rodan LH, Hauptman M, D'Gama AM, Qualls AE, Cao S, Tuschl K, Al-Jasmi F, Hertecant J, Hayflick SJ, Wessling-Resnick M, Yang ET, Berry GT, Gropman A, Woolf AD, Agrawal PB
Mol Genet Metab 2018 Jun;124(2):161-167. Epub 2018 Apr 6 doi: 10.1016/j.ymgme.2018.04.002. PMID: 29685658Free PMC Article
Aslan D
Pediatr Blood Cancer 2018 Feb;65(2) Epub 2017 Sep 12 doi: 10.1002/pbc.26789. PMID: 28895280
Belelli E, Passarelli C, Pardeo M, Holzinger D, De Benedetti F, Insalaco A
Clin Exp Rheumatol 2017 Nov-Dec;35 Suppl 108(6):113-115. Epub 2017 Jun 19 PMID: 28628471
Guo S, Frazer DM, Anderson GJ
Curr Opin Clin Nutr Metab Care 2016 Jul;19(4):276-81. doi: 10.1097/MCO.0000000000000285. PMID: 27137899
Struys EA, Nota B, Bakkali A, Al Shahwan S, Salomons GS, Tabarki B
Pediatrics 2012 Dec;130(6):e1716-9. Epub 2012 Nov 12 doi: 10.1542/peds.2012-1094. PMID: 23147983

Prognosis

Aslan D
Pediatr Blood Cancer 2018 Feb;65(2) Epub 2017 Sep 12 doi: 10.1002/pbc.26789. PMID: 28895280
Belelli E, Passarelli C, Pardeo M, Holzinger D, De Benedetti F, Insalaco A
Clin Exp Rheumatol 2017 Nov-Dec;35 Suppl 108(6):113-115. Epub 2017 Jun 19 PMID: 28628471
Lalioti V, Tsubota A, Sandoval IV
Semin Liver Dis 2017 May;37(2):175-188. Epub 2017 May 31 doi: 10.1055/s-0037-1602764. PMID: 28564725
Wu X, Leegwater PA, Fieten H
Int J Mol Sci 2016 Feb 4;17(2):196. doi: 10.3390/ijms17020196. PMID: 26861285Free PMC Article
Sie SD, de Jonge RC, Blom HJ, Mulder MF, Reiss J, Vermeulen RJ, Peeters-Scholte CM
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S401-7. Epub 2010 Sep 24 doi: 10.1007/s10545-010-9198-z. PMID: 20865336Free PMC Article

Clinical prediction guides

Aslan D
Pediatr Blood Cancer 2018 Feb;65(2) Epub 2017 Sep 12 doi: 10.1002/pbc.26789. PMID: 28895280
Belelli E, Passarelli C, Pardeo M, Holzinger D, De Benedetti F, Insalaco A
Clin Exp Rheumatol 2017 Nov-Dec;35 Suppl 108(6):113-115. Epub 2017 Jun 19 PMID: 28628471
Huijmans JGM, Schot R, de Klerk JBC, Williams M, de Coo RFM, Duran M, Verheijen FW, van Slegtenhorst M, Mancini GMS
Am J Med Genet A 2017 Jun;173(6):1601-1606. doi: 10.1002/ajmg.a.38240. PMID: 28544736
Jakubiczka-Smorag J, Santamaria-Araujo JA, Metz I, Kumar A, Hakroush S, Brueck W, Schwarz G, Burfeind P, Reiss J, Smorag L
Hum Genet 2016 Jul;135(7):813-26. Epub 2016 May 2 doi: 10.1007/s00439-016-1676-4. PMID: 27138983
Sie SD, de Jonge RC, Blom HJ, Mulder MF, Reiss J, Vermeulen RJ, Peeters-Scholte CM
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S401-7. Epub 2010 Sep 24 doi: 10.1007/s10545-010-9198-z. PMID: 20865336Free PMC Article

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