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Brain Diseases, Metabolic, Inborn

MedGen UID:
156005
Concept ID:
C0752109
Disease or Syndrome
Synonyms: Brain Syndrome, Metabolic, Inborn; Encephalopathies, Metabolic, Inborn; Inborn Errors of Metabolism, Brain; Inborn Metabolic Brain Diseases; Inborn Metabolic Brain Disorders; Inborn Metabolic Disorders, Brain; Metabolic Brain Diseases, Inborn; Metabolic Brain Syndrome, Inborn; Metabolic Diseases, Inborn, Brain

Definition

Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBrain Diseases, Metabolic, Inborn

Professional guidelines

PubMed

Germain DP, Altarescu G, Barriales-Villa R, Mignani R, Pawlaczyk K, Pieruzzi F, Terryn W, Vujkovac B, Ortiz A
Mol Genet Metab 2022 Sep-Oct;137(1-2):49-61. Epub 2022 Jul 26 doi: 10.1016/j.ymgme.2022.07.010. PMID: 35926321
Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
Schilsky ML
Clin Liver Dis 2017 Nov;21(4):755-767. Epub 2017 Aug 10 doi: 10.1016/j.cld.2017.06.011. PMID: 28987261

Recent clinical studies

Etiology

Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
de Souza PVS, Bortholin T, Naylor FGM, Chieia MAT, de Rezende Pinto WBV, Oliveira ASB
Rev Neurol (Paris) 2018 Mar;174(3):115-124. Epub 2017 Nov 8 doi: 10.1016/j.neurol.2017.06.020. PMID: 29128155
Peters V, Zschocke J, Schmitt CP
J Inherit Metab Dis 2018 Jan;41(1):39-47. Epub 2017 Oct 13 doi: 10.1007/s10545-017-0099-2. PMID: 29027595
Fons C, Campistol J
Semin Pediatr Neurol 2016 Nov;23(4):285-289. Epub 2016 Nov 17 doi: 10.1016/j.spen.2016.11.003. PMID: 28284390
Longo MG, Vairo F, Souza CF, Giugliani R, Vedolin LM
Neuroimaging Clin N Am 2015 Feb;25(1):31-51. doi: 10.1016/j.nic.2014.09.004. PMID: 25476511

Diagnosis

Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Waldman AT
Continuum (Minneap Minn) 2018 Feb;24(1, Child Neurology):130-149. doi: 10.1212/CON.0000000000000560. PMID: 29432240
Landau YE, Lichter-Konecki U, Levy HL
J Pediatr 2014 Jan;164(1):14-9. Epub 2013 Aug 27 doi: 10.1016/j.jpeds.2013.07.028. PMID: 23992678
Steinlein OK
Dialogues Clin Neurosci 2008;10(1):29-38. doi: 10.31887/DCNS.2008.10.1/oksteinlein. PMID: 18472482Free PMC Article
Quinzii CM, DiMauro S, Hirano M
Neurochem Res 2007 Apr-May;32(4-5):723-7. Epub 2006 Nov 10 doi: 10.1007/s11064-006-9190-z. PMID: 17094036Free PMC Article

Therapy

Mabondzo A, van de Kamp J, Mercimek-Andrews S
Cell Mol Life Sci 2024 Apr 17;81(1):186. doi: 10.1007/s00018-024-05218-y. PMID: 38632116Free PMC Article
Herrera PM, Vélez Van Meerbeke A, Bonnot O
Rev Colomb Psiquiatr (Engl Ed) 2018 Oct-Dec;47(4):244-251. Epub 2017 Jun 17 doi: 10.1016/j.rcp.2017.05.004. PMID: 30286847
Tiranti V, Zeviani M
Cold Spring Harb Perspect Biol 2013 Jan 1;5(1):a011437. doi: 10.1101/cshperspect.a011437. PMID: 23284046Free PMC Article
Quinzii CM, DiMauro S, Hirano M
Neurochem Res 2007 Apr-May;32(4-5):723-7. Epub 2006 Nov 10 doi: 10.1007/s11064-006-9190-z. PMID: 17094036Free PMC Article
de Koning TJ
J Inherit Metab Dis 2006 Apr-Jun;29(2-3):347-51. doi: 10.1007/s10545-006-0269-0. PMID: 16763900

Prognosis

Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Peters V, Zschocke J, Schmitt CP
J Inherit Metab Dis 2018 Jan;41(1):39-47. Epub 2017 Oct 13 doi: 10.1007/s10545-017-0099-2. PMID: 29027595
Clark JF, Cecil KM
Pediatr Res 2015 Mar;77(3):398-405. Epub 2014 Dec 18 doi: 10.1038/pr.2014.203. PMID: 25521922
Landau YE, Lichter-Konecki U, Levy HL
J Pediatr 2014 Jan;164(1):14-9. Epub 2013 Aug 27 doi: 10.1016/j.jpeds.2013.07.028. PMID: 23992678
Patay Z, Mills JC, Löbel U, Lambert A, Sablauer A, Ellison DW
AJNR Am J Neuroradiol 2012 May;33(5):940-3. Epub 2012 Jan 12 doi: 10.3174/ajnr.A2869. PMID: 22241392Free PMC Article

Clinical prediction guides

Geoerger B, Schiff M, Penard-Lacronique V, Darin N, Saad SM, Duchon C, Lamazière A, Desmons A, Pontoizeau C, Berlanga P, Ducassou S, Yen K, Su M, Schenkein D, Ottolenghi C, De Botton S
Nat Med 2023 Jun;29(6):1358-1363. Epub 2023 May 29 doi: 10.1038/s41591-023-02382-9. PMID: 37248298
Engelstad K, Salazar R, Koenigsberger D, Stackowtiz E, Brodlie S, Brandabur M, De Vivo DC
Ann Clin Transl Neurol 2021 May;8(5):1151-1157. Epub 2021 May 1 doi: 10.1002/acn3.51359. PMID: 33931985Free PMC Article
Gil JM, Rego AC
Eur J Neurosci 2008 Jun;27(11):2803-20. doi: 10.1111/j.1460-9568.2008.06310.x. PMID: 18588526
Sedel F, Tourbah A, Fontaine B, Lubetzki C, Baumann N, Saudubray JM, Lyon-Caen O
J Inherit Metab Dis 2008 Jun;31(3):295-307. Epub 2008 Feb 25 doi: 10.1007/s10545-008-0778-0. PMID: 18344012
de Koning TJ, Klomp LW
Curr Opin Neurol 2004 Apr;17(2):197-204. doi: 10.1097/00019052-200404000-00019. PMID: 15021249

Recent systematic reviews

Grünert SC, Foster W, Schumann A, Lund A, Pontes C, Roloff S, Weinhold N, Yue WW, AlAsmari A, Obaid OA, Faqeih EA, Stübbe L, Yamamoto R, Gemperle-Britschgi C, Walter M, Spiekerkoetter U, Mackinnon S, Sass JO
Biochimie 2021 Apr;183:55-62. Epub 2021 Feb 14 doi: 10.1016/j.biochi.2021.02.003. PMID: 33596448
Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD
Mol Genet Metab 2014 Aug;112(4):259-74. Epub 2014 May 29 doi: 10.1016/j.ymgme.2014.05.011. PMID: 24953403

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