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Inborn errors of metabolism

MedGen UID:
6323
Concept ID:
C0025521
Disease or Syndrome
Synonym: Inborn error of metabolism
SNOMED CT: IBEM - Inborn error of metabolism (86095007); IEM - Inborn error of metabolism (86095007); Inborn error of metabolism (86095007)
 
Monarch Initiative: MONDO:0019052
Orphanet: ORPHA68367

Definition

A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInborn errors of metabolism

Professional guidelines

PubMed

Feldman AG, Sokol RJ
Semin Pediatr Surg 2020 Aug;29(4):150945. Epub 2020 Jul 23 doi: 10.1016/j.sempedsurg.2020.150945. PMID: 32861449Free PMC Article
Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, Nussbaum RL, Randi SS, Sanford J, Shieh JT, Srinivasan R, Sunderam U, Tang H, Vaka D, Zou Y, Koenig BA, Kwok PY, Risch N, Puck JM, Brenner SE
Nat Med 2020 Sep;26(9):1392-1397. Epub 2020 Aug 10 doi: 10.1038/s41591-020-0966-5. PMID: 32778825Free PMC Article
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A
Orphanet J Rare Dis 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. PMID: 25205257Free PMC Article

Recent clinical studies

Etiology

Balakrishnan U
Indian J Pediatr 2021 Jul;88(7):679-689. Epub 2021 Jun 7 doi: 10.1007/s12098-021-03759-9. PMID: 34097229
Douillard C, Jannin A, Vantyghem MC
Ann Endocrinol (Paris) 2020 Jun;81(2-3):110-117. Epub 2020 Apr 10 doi: 10.1016/j.ando.2020.04.003. PMID: 32409005
Ferreira CR, van Karnebeek CDM
Handb Clin Neurol 2019;162:449-481. doi: 10.1016/B978-0-444-64029-1.00022-9. PMID: 31324325
Summar ML, Mew NA
Pediatr Clin North Am 2018 Apr;65(2):231-246. Epub 2018 Feb 2 doi: 10.1016/j.pcl.2017.11.004. PMID: 29502911
Grant DM
J Inherit Metab Dis 1991;14(4):421-30. doi: 10.1007/BF01797915. PMID: 1749210

Diagnosis

Casertano A, Rossi A, Fecarotta S, Rosanio FM, Moracas C, Di Candia F, Parenti G, Franzese A, Mozzillo E
Front Endocrinol (Lausanne) 2021;12:684011. Epub 2021 Aug 2 doi: 10.3389/fendo.2021.684011. PMID: 34408725Free PMC Article
Balakrishnan U
Indian J Pediatr 2021 Jul;88(7):679-689. Epub 2021 Jun 7 doi: 10.1007/s12098-021-03759-9. PMID: 34097229
Ferreira CR, van Karnebeek CDM
Handb Clin Neurol 2019;162:449-481. doi: 10.1016/B978-0-444-64029-1.00022-9. PMID: 31324325
Foreman JW
Pediatr Clin North Am 2019 Feb;66(1):159-167. doi: 10.1016/j.pcl.2018.09.002. PMID: 30454741
Saudubray JM, Garcia-Cazorla À
Pediatr Clin North Am 2018 Apr;65(2):179-208. doi: 10.1016/j.pcl.2017.11.002. PMID: 29502909

Therapy

Falsaperla R, Sciuto L, La Spina L, Sciuto S, Praticò AD, Ruggieri M
Metab Brain Dis 2021 Dec;36(8):2195-2203. Epub 2021 Aug 17 doi: 10.1007/s11011-021-00798-1. PMID: 34403026Free PMC Article
Tako E
Nutrients 2019 Nov 19;11(11) doi: 10.3390/nu11112823. PMID: 31752257Free PMC Article
Price JF
Pediatr Rev 2019 Feb;40(2):60-70. doi: 10.1542/pir.2016-0168. PMID: 30709972
Ferreira GC, McKenna MC
Neurochem Res 2017 Jun;42(6):1661-1675. Epub 2017 May 16 doi: 10.1007/s11064-017-2288-7. PMID: 28508995Free PMC Article
Frank LL
JPEN J Parenter Enteral Nutr 2015 Jul;39(5):503-20. Epub 2015 Jan 6 doi: 10.1177/0148607114565245. PMID: 25564426

Prognosis

Troisi J, Cavallo P, Colucci A, Pierri L, Scala G, Symes S, Jones C, Richards S
Adv Clin Chem 2020;94:85-153. Epub 2019 Sep 6 doi: 10.1016/bs.acc.2019.07.009. PMID: 31952575
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E
J Inherit Metab Dis 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. PMID: 30740725
Jacob M, Lopata AL, Dasouki M, Abdel Rahman AM
Mass Spectrom Rev 2019 May;38(3):221-238. Epub 2017 Oct 26 doi: 10.1002/mas.21548. PMID: 29073341
Peters V, Vockley J
J Inherit Metab Dis 2018 Jan;41(1):1-2. doi: 10.1007/s10545-017-0121-8. PMID: 29230604
Sparks SE
Clin Perinatol 2015 Jun;42(2):363-71, ix. doi: 10.1016/j.clp.2015.02.008. PMID: 26042909

Clinical prediction guides

Guéant JL, Guéant-Rodriguez RM, Oussalah A, Zuily S, Rosenberg I
Thromb Haemost 2023 Mar;123(3):270-282. Epub 2022 Sep 28 doi: 10.1055/a-1952-1946. PMID: 36170884
Surendran P, Stewart ID, Au Yeung VPW, Pietzner M, Raffler J, Wörheide MA, Li C, Smith RF, Wittemans LBL, Bomba L, Menni C, Zierer J, Rossi N, Sheridan PA, Watkins NA, Mangino M, Hysi PG, Di Angelantonio E, Falchi M, Spector TD, Soranzo N, Michelotti GA, Arlt W, Lotta LA, Denaxas S, Hemingway H, Gamazon ER, Howson JMM, Wood AM, Danesh J, Wareham NJ, Kastenmüller G, Fauman EB, Suhre K, Butterworth AS, Langenberg C
Nat Med 2022 Nov;28(11):2321-2332. Epub 2022 Nov 10 doi: 10.1038/s41591-022-02046-0. PMID: 36357675Free PMC Article
Falsaperla R, Sciuto L, La Spina L, Sciuto S, Praticò AD, Ruggieri M
Metab Brain Dis 2021 Dec;36(8):2195-2203. Epub 2021 Aug 17 doi: 10.1007/s11011-021-00798-1. PMID: 34403026Free PMC Article
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2016 Oct 19;10(10):CD005088. doi: 10.1002/14651858.CD005088.pub4. PMID: 27760454Free PMC Article
Arroyo JD, Jourdain AA, Calvo SE, Ballarano CA, Doench JG, Root DE, Mootha VK
Cell Metab 2016 Dec 13;24(6):875-885. Epub 2016 Sep 22 doi: 10.1016/j.cmet.2016.08.017. PMID: 27667664Free PMC Article

Recent systematic reviews

Ranucci G, Della Corte C, Alberti D, Bondioni MP, Boroni G, Calvo PL, Cananzi M, Candusso M, Clemente MG, D'Antiga L, Degrassi I, De Ville De Goyet J, Di Dato F, Di Giorgio A, Vici CD, Ferrari F, Francalanci P, Fuoti M, Fusaro F, Gaio P, Grimaldi C, Iascone M, Indolfi G, Iorio R, Maggiore G, Mandato C, Matarazzo L, Monti L, Mosca F, Nebbia G, Nuti F, Paolella G, Pinon M, Roggero P, Sciveres M, Serranti D, Spada M, Vajro P, Nicastro E
Dig Liver Dis 2022 Jan;54(1):40-53. Epub 2021 Oct 20 doi: 10.1016/j.dld.2021.09.011. PMID: 34688573
Falsaperla R, Sciuto L, La Spina L, Sciuto S, Praticò AD, Ruggieri M
Metab Brain Dis 2021 Dec;36(8):2195-2203. Epub 2021 Aug 17 doi: 10.1007/s11011-021-00798-1. PMID: 34403026Free PMC Article
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM
J Inherit Metab Dis 2021 Jan;44(1):178-192. Epub 2020 Dec 1 doi: 10.1002/jimd.12332. PMID: 33200442
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2016 Oct 19;10(10):CD005088. doi: 10.1002/14651858.CD005088.pub4. PMID: 27760454Free PMC Article
Moeschler JB, Shevell M; Committee on Genetics
Pediatrics 2014 Sep;134(3):e903-18. doi: 10.1542/peds.2014-1839. PMID: 25157020Free PMC Article

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