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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

Recent developments in diagnostics and treatment of neonatal cholestasis.
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
Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management.
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
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
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

Inborn Errors of Metabolism-Approach to Diagnosis and Management in Neonates.
Balakrishnan U
Indian J Pediatr 2021 Jul;88(7):679-689. Epub 2021 Jun 7 doi: 10.1007/s12098-021-03759-9. PMID: 34097229
Rare causes of hypoglycemia in adults.
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
Inborn errors of metabolism.
Ferreira CR, van Karnebeek CDM
Handb Clin Neurol 2019;162:449-481. doi: 10.1016/B978-0-444-64029-1.00022-9. PMID: 31324325
Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders.
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
Detoxification pathways in the liver.
Grant DM
J Inherit Metab Dis 1991;14(4):421-30. doi: 10.1007/BF01797915. PMID: 1749210

Diagnosis

An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use.
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
Inborn Errors of Metabolism-Approach to Diagnosis and Management in Neonates.
Balakrishnan U
Indian J Pediatr 2021 Jul;88(7):679-689. Epub 2021 Jun 7 doi: 10.1007/s12098-021-03759-9. PMID: 34097229
Inborn errors of metabolism.
Ferreira CR, van Karnebeek CDM
Handb Clin Neurol 2019;162:449-481. doi: 10.1016/B978-0-444-64029-1.00022-9. PMID: 31324325
Fanconi Syndrome.
Foreman JW
Pediatr Clin North Am 2019 Feb;66(1):159-167. doi: 10.1016/j.pcl.2018.09.002. PMID: 30454741
Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management.
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

Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review.
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
Dietary Trace Minerals.
Tako E
Nutrients 2019 Nov 19;11(11) doi: 10.3390/nu11112823. PMID: 31752257Free PMC Article
Congestive Heart Failure in Children.
Price JF
Pediatr Rev 2019 Feb;40(2):60-70. doi: 10.1542/pir.2016-0168. PMID: 30709972
L-Carnitine and Acetyl-L-carnitine Roles and Neuroprotection in Developing Brain.
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
Bisphosphonate therapy for osteogenesis imperfecta.
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

Prognosis

Inborn errors of metabolism and their impact in paediatric dentistry.
Hirst L, Chakrapani A, Mubeen S
J Inherit Metab Dis 2022 May;45(3):417-430. Epub 2022 Mar 11 doi: 10.1002/jimd.12493. PMID: 35244948
Metabolomics in genetic testing.
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
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
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
Do inborn errors of metabolism confer or impede the risk of diabetes?
Peters V, Vockley J
J Inherit Metab Dis 2018 Jan;41(1):1-2. doi: 10.1007/s10545-017-0121-8. PMID: 29230604
Neonatal hypotonia.
Sparks SE
Clin Perinatol 2015 Jun;42(2):363-71, ix. doi: 10.1016/j.clp.2015.02.008. PMID: 26042909

Clinical prediction guides

Hyperhomocysteinemia in Cardiovascular Diseases: Revisiting Observational Studies and Clinical Trials.
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
Rare and common genetic determinants of metabolic individuality and their effects on human health.
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
Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review.
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
Bisphosphonate therapy for osteogenesis imperfecta.
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
A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation.
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

Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review.
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
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
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
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
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
Bisphosphonate therapy for osteogenesis imperfecta.
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
Comprehensive evaluation of the child with intellectual disability or global developmental delays.
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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    Reviews

    Related information

    • ClinVar
      Related medical variations
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      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
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