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Inborn error of metabolism

MedGen UID:
6323
Concept ID:
C0025521
Congenital Abnormality; Disease or Syndrome
Synonyms: Error, Inborn Metabolism; Errors Metabolism, Inborn; Errors Metabolisms, Inborn; Errors, Inborn Metabolism; Inborn Errors Metabolism; Inborn Errors Metabolisms; Inborn Errors of Metabolism; Inborn Metabolism Error; Inborn Metabolism Errors; Metabolism Error, Inborn; Metabolism Errors, Inborn; Metabolism Inborn Error; Metabolism Inborn Errors; Metabolism, Inborn Errors; Metabolisms, Inborn Errors
SNOMED CT: IBEM - Inborn error of metabolism (86095007); IEM - Inborn error of metabolism (86095007); Inborn error of metabolism (86095007)
 

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 error of metabolism

Recent clinical studies

Etiology

Vaz FM, Huidekoper HH, Paulusma CC
Dig Dis 2017;35(3):259-260. Epub 2017 Mar 1 doi: 10.1159/000450984. PMID: 28249272
Yunus ZM, Rahman SA, Choy YS, Keng WT, Ngu LH
J Pediatr Endocrinol Metab 2016 Sep 1;29(9):1031-9. doi: 10.1515/jpem-2016-0028. PMID: 27544719
Gazit E
J Inherit Metab Dis 2016 Jul;39(4):483-8. Epub 2016 Jun 6 doi: 10.1007/s10545-016-9946-9. PMID: 27271695
Taybert J
Dev Period Med 2015 Oct-Dec;19(4):519-22. PMID: 26982765
Gramer G, Haege G, Glahn EM, Hoffmann GF, Lindner M, Burgard P
J Inherit Metab Dis 2014 Mar;37(2):189-95. Epub 2013 Aug 16 doi: 10.1007/s10545-013-9639-6. PMID: 23949009

Diagnosis

Bennett EE, Hummel K, Smith AG, Longo N
J Emerg Med 2019 Jan;56(1):e5-e8. Epub 2018 Nov 9 doi: 10.1016/j.jemermed.2018.09.037. PMID: 30420308
Vaz FM, Huidekoper HH, Paulusma CC
Dig Dis 2017;35(3):259-260. Epub 2017 Mar 1 doi: 10.1159/000450984. PMID: 28249272
Yunus ZM, Rahman SA, Choy YS, Keng WT, Ngu LH
J Pediatr Endocrinol Metab 2016 Sep 1;29(9):1031-9. doi: 10.1515/jpem-2016-0028. PMID: 27544719
Iqbal F
Pak J Pharm Sci 2015 Nov;28(6):2207-11. PMID: 26639513
Lim JS, Tan ES, John CM, Poh S, Yeo SJ, Ang JS, Adakalaisamy P, Rozalli RA, Hart C, Tan ET, Ranieri E, Rajadurai VS, Cleary MA, Goh DL
Mol Genet Metab 2014 Sep-Oct;113(1-2):53-61. Epub 2014 Jul 23 doi: 10.1016/j.ymgme.2014.07.018. PMID: 25102806

Therapy

Hayek W, Dumin Y, Tal G, Zehavi Y, Sakran W, Spiegel R
Isr Med Assoc J 2019 Mar;21(3):219-221. PMID: 30905112
Whyte MP
J Bone Miner Res 2017 Apr;32(4):667-675. Epub 2017 Jan 31 doi: 10.1002/jbmr.3075. PMID: 28084648
Iqbal F
Pak J Pharm Sci 2015 Nov;28(6):2207-11. PMID: 26639513
Banka S, Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de Brouwer AP, Hilton E, Vassallo G, Will A, Smith DE, Smulders YM, Wevers RA, Steinfeld R, Heales S, Crow YJ, Pelletier JN, Jones S, Newman WG
Am J Hum Genet 2011 Feb 11;88(2):216-25. doi: 10.1016/j.ajhg.2011.01.004. PMID: 21310276Free PMC Article
Schulze A, Hess T, Wevers R, Mayatepek E, Bachert P, Marescau B, Knopp MV, De Deyn PP, Bremer HJ, Rating D
J Pediatr 1997 Oct;131(4):626-31. doi: 10.1016/s0022-3476(97)70075-1. PMID: 9386672

Prognosis

Vaz FM, Huidekoper HH, Paulusma CC
Dig Dis 2017;35(3):259-260. Epub 2017 Mar 1 doi: 10.1159/000450984. PMID: 28249272
Yunus ZM, Rahman SA, Choy YS, Keng WT, Ngu LH
J Pediatr Endocrinol Metab 2016 Sep 1;29(9):1031-9. doi: 10.1515/jpem-2016-0028. PMID: 27544719
Peters H, Buck N, Wanders R, Ruiter J, Waterham H, Koster J, Yaplito-Lee J, Ferdinandusse S, Pitt J
Brain 2014 Nov;137(Pt 11):2903-8. Epub 2014 Aug 14 doi: 10.1093/brain/awu216. PMID: 25125611
Lim JS, Tan ES, John CM, Poh S, Yeo SJ, Ang JS, Adakalaisamy P, Rozalli RA, Hart C, Tan ET, Ranieri E, Rajadurai VS, Cleary MA, Goh DL
Mol Genet Metab 2014 Sep-Oct;113(1-2):53-61. Epub 2014 Jul 23 doi: 10.1016/j.ymgme.2014.07.018. PMID: 25102806
Manel L, Houneida ZB, Habib A, Dejla B, Chekib K
Acta Neurol Belg 2012 Dec;112(4):425-6. Epub 2012 Jun 15 doi: 10.1007/s13760-012-0098-x. PMID: 22700370Free PMC Article

Clinical prediction guides

Gazit E
J Inherit Metab Dis 2016 Jul;39(4):483-8. Epub 2016 Jun 6 doi: 10.1007/s10545-016-9946-9. PMID: 27271695
Lim JS, Tan ES, John CM, Poh S, Yeo SJ, Ang JS, Adakalaisamy P, Rozalli RA, Hart C, Tan ET, Ranieri E, Rajadurai VS, Cleary MA, Goh DL
Mol Genet Metab 2014 Sep-Oct;113(1-2):53-61. Epub 2014 Jul 23 doi: 10.1016/j.ymgme.2014.07.018. PMID: 25102806
Mistry PK, Taddei T, vom Dahl S, Rosenbloom BE
Crit Rev Oncog 2013;18(3):235-46. PMID: 23510066Free PMC Article
Pierce SB, Spurrell CH, Mandell JB, Lee MK, Zeligson S, Bereman MS, Stray SM, Fokstuen S, MacCoss MJ, Levy-Lahad E, King MC, Motulsky AG
Proc Natl Acad Sci U S A 2011 Nov 8;108(45):18313-7. Epub 2011 Oct 31 doi: 10.1073/pnas.1115888108. PMID: 22042873Free PMC Article
Engelke UF, Sass JO, Van Coster RN, Gerlo E, Olbrich H, Krywawych S, Calvin J, Hart C, Omran H, Wevers RA
NMR Biomed 2008 Feb;21(2):138-47. doi: 10.1002/nbm.1170. PMID: 17516490

Recent systematic reviews

Bianchetti DGAM, Amelio GS, Lava SAG, Bianchetti MG, Simonetti GD, Agostoni C, Fossali EF, Milani GP
Pediatr Nephrol 2018 Apr;33(4):673-681. Epub 2017 Dec 7 doi: 10.1007/s00467-017-3844-8. PMID: 29218437
Clericetti CM, Milani GP, Lava SAG, Bianchetti MG, Simonetti GD, Giannini O
Pediatr Nephrol 2018 Mar;33(3):485-491. Epub 2017 Nov 13 doi: 10.1007/s00467-017-3829-7. PMID: 29134448
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R
Cochrane Database Syst Rev 2017 Dec 23;12:CD012272. doi: 10.1002/14651858.CD012272.pub2. PMID: 29274129Free PMC Article
Nasser M, Javaheri H, Fedorowicz Z, Noorani Z
Cochrane Database Syst Rev 2012 Feb 15;(2):CD006659. doi: 10.1002/14651858.CD006659.pub3. PMID: 22336821
Nasser M, Javaheri H, Fedorowicz Z, Noorani Z
Cochrane Database Syst Rev 2009 Apr 15;(2):CD006659. doi: 10.1002/14651858.CD006659.pub2. PMID: 19370646

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