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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

Newborn Screening.
Pappas KB
Pediatr Clin North Am 2023 Oct;70(5):1013-1027. doi: 10.1016/j.pcl.2023.06.003. PMID: 37704344
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
The role of exome sequencing in newborn screening for inborn errors of metabolism.
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

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

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
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
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

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
Men S, Liu S, Zheng Q, Yang S, Mao H, Wang Z, Gu Y, Tang X, Wang L
Mol Genet Genomic Med 2023 Jun;11(6):e2152. Epub 2023 Feb 14 doi: 10.1002/mgg3.2152. PMID: 36787440Free PMC Article
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

Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y, Jiang J, Xu Z
Orphanet J Rare Dis 2023 Jun 12;18(1):148. doi: 10.1186/s13023-023-02726-1. PMID: 37308883Free PMC Article
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
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

Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y, Jiang J, Xu Z
Orphanet J Rare Dis 2023 Jun 12;18(1):148. doi: 10.1186/s13023-023-02726-1. PMID: 37308883Free PMC Article
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
Conte F, Sam JE, Lefeber DJ, Passier R
Int J Mol Sci 2023 May 11;24(10) doi: 10.3390/ijms24108632. PMID: 37239976Free 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
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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    Related information

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