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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
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
Neonatal hypotonia.
Sparks SE
Clin Perinatol 2015 Jun;42(2):363-71, ix. doi: 10.1016/j.clp.2015.02.008. PMID: 26042909
Detoxification pathways in the liver.
Grant DM
J Inherit Metab Dis 1991;14(4):421-30. doi: 10.1007/BF01797915. PMID: 1749210

Diagnosis

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.
Kiess W, Kirstein A, Beblo S
J Pediatr Endocrinol Metab 2020 Jan 28;33(1):1-3. doi: 10.1515/jpem-2019-0582. PMID: 31922958
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

Dietary interventions for phenylketonuria.
Jameson E, Remmington T
Cochrane Database Syst Rev 2020 Jul 16;7(7):CD001304. doi: 10.1002/14651858.CD001304.pub3. PMID: 32672365Free 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
Postpartum Psychosis: Madness, Mania, and Melancholia in Motherhood.
Bergink V, Rasgon N, Wisner KL
Am J Psychiatry 2016 Dec 1;173(12):1179-1188. Epub 2016 Sep 9 doi: 10.1176/appi.ajp.2016.16040454. PMID: 27609245
Thiamin in Clinical Practice.
Frank LL
JPEN J Parenter Enteral Nutr 2015 Jul;39(5):503-20. Epub 2015 Jan 6 doi: 10.1177/0148607114565245. PMID: 25564426

Prognosis

Metabolomics toward personalized medicine.
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
Hypoxic-Ischemic Encephalopathy and Other Neonatal Encephalopathies.
Glass HC
Continuum (Minneap Minn) 2018 Feb;24(1, Child Neurology):57-71. doi: 10.1212/CON.0000000000000557. PMID: 29432237
Neonatal Hypoglycemia: Risk Factors and Outcomes.
Stomnaroska O, Petkovska E, Jancevska S, Danilovski D
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2017 Mar 1;38(1):97-101. doi: 10.1515/prilozi-2017-0013. PMID: 28593892
Neonatal hypotonia.
Sparks SE
Clin Perinatol 2015 Jun;42(2):363-71, ix. doi: 10.1016/j.clp.2015.02.008. PMID: 26042909
Homocysteine.
Finkelstein JD, Martin JJ
Int J Biochem Cell Biol 2000 Apr;32(4):385-9. doi: 10.1016/s1357-2725(99)00138-7. PMID: 10762063

Clinical prediction guides

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
Homocysteine.
Finkelstein JD, Martin JJ
Int J Biochem Cell Biol 2000 Apr;32(4):385-9. doi: 10.1016/s1357-2725(99)00138-7. PMID: 10762063

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
Tyrosine supplementation for phenylketonuria.
Remmington T, Smith S
Cochrane Database Syst Rev 2021 Jan 4;1(1):CD001507. doi: 10.1002/14651858.CD001507.pub4. PMID: 33427303Free PMC Article
Dietary interventions for phenylketonuria.
Jameson E, Remmington T
Cochrane Database Syst Rev 2020 Jul 16;7(7):CD001304. doi: 10.1002/14651858.CD001304.pub3. PMID: 32672365Free 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
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

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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