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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

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.
Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
The complete European guidelines on phenylketonuria: diagnosis and treatment.
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ
Orphanet J Rare Dis 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. PMID: 29025426Free PMC Article
Wilson Disease: Diagnosis, Treatment, and Follow-up.
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

Neurometabolic Diseases in Children: Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy Features.
Aksoy DÖ, Alkan A
Curr Med Imaging Rev 2019;15(3):255-268. doi: 10.2174/1573405613666171123152451. PMID: 31989877
Genetic mimics of cerebral palsy.
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
Synaptic metabolism: a new approach to inborn errors of neurotransmission.
Tristán-Noguero A, García-Cazorla À
J Inherit Metab Dis 2018 Nov;41(6):1065-1075. Epub 2018 Jul 16 doi: 10.1007/s10545-018-0235-7. PMID: 30014210
Creatine biosynthesis and transport in health and disease.
Joncquel-Chevalier Curt M, Voicu PM, Fontaine M, Dessein AF, Porchet N, Mention-Mulliez K, Dobbelaere D, Soto-Ares G, Cheillan D, Vamecq J
Biochimie 2015 Dec;119:146-65. Epub 2015 Nov 2 doi: 10.1016/j.biochi.2015.10.022. PMID: 26542286
Serine-deficiency syndromes.
de Koning TJ, Klomp LW
Curr Opin Neurol 2004 Apr;17(2):197-204. doi: 10.1097/00019052-200404000-00019. PMID: 15021249

Diagnosis

Cerebral folate deficiency: Analytical tests and differential diagnosis.
Pope S, Artuch R, Heales S, Rahman S
J Inherit Metab Dis 2019 Jul;42(4):655-672. Epub 2019 May 2 doi: 10.1002/jimd.12092. PMID: 30916789
Genetic mimics of cerebral palsy.
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
Neurometabolic Disorders of the Newborn.
Mankad K, Talenti G, Tan AP, Gonçalves FG, Robles C, Kan EYL, Siddiqui A
Top Magn Reson Imaging 2018 Aug;27(4):179-196. doi: 10.1097/RMR.0000000000000176. PMID: 30086107
Leukodystrophies.
Waldman AT
Continuum (Minneap Minn) 2018 Feb;24(1, Child Neurology):130-149. doi: 10.1212/CON.0000000000000560. PMID: 29432240
Serine-deficiency syndromes.
de Koning TJ, Klomp LW
Curr Opin Neurol 2004 Apr;17(2):197-204. doi: 10.1097/00019052-200404000-00019. PMID: 15021249

Therapy

Sphingolipids as Regulators of Neuro-Inflammation and NADPH Oxidase 2.
Arsenault EJ, McGill CM, Barth BM
Neuromolecular Med 2021 Mar;23(1):25-46. Epub 2021 Feb 5 doi: 10.1007/s12017-021-08646-2. PMID: 33547562Free PMC Article
Inherited Disorders of Lysine Metabolism: A Review.
Bouchereau J, Schiff M
J Nutr 2020 Oct 1;150(Suppl 1):2556S-2560S. doi: 10.1093/jn/nxaa112. PMID: 33000154
Cerebral folate deficiency: Analytical tests and differential diagnosis.
Pope S, Artuch R, Heales S, Rahman S
J Inherit Metab Dis 2019 Jul;42(4):655-672. Epub 2019 May 2 doi: 10.1002/jimd.12092. PMID: 30916789
Psychiatric Disorders Secondary to Neurometabolic Disorders.
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
Human coenzyme Q10 deficiency.
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

Prognosis

Neurometabolic Diseases in Children: Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy Features.
Aksoy DÖ, Alkan A
Curr Med Imaging Rev 2019;15(3):255-268. doi: 10.2174/1573405613666171123152451. PMID: 31989877
Genetic mimics of cerebral palsy.
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
Genomics in newborn screening.
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
Mitochondrial disease and epilepsy.
Rahman S
Dev Med Child Neurol 2012 May;54(5):397-406. Epub 2012 Jan 28 doi: 10.1111/j.1469-8749.2011.04214.x. PMID: 22283595
The eye in metabolic diseases: clues to diagnosis.
Poll-The BT, Maillette de Buy Wenniger-Prick CJ
Eur J Paediatr Neurol 2011 May;15(3):197-204. Epub 2011 Apr 20 doi: 10.1016/j.ejpn.2011.03.005. PMID: 21511505

Clinical prediction guides

Cerebral folate deficiency: Analytical tests and differential diagnosis.
Pope S, Artuch R, Heales S, Rahman S
J Inherit Metab Dis 2019 Jul;42(4):655-672. Epub 2019 May 2 doi: 10.1002/jimd.12092. PMID: 30916789
Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation.
Kölker S, Burgard P, Sauer SW, Okun JG
J Inherit Metab Dis 2013 Jul;36(4):635-44. Epub 2013 Mar 20 doi: 10.1007/s10545-013-9600-8. PMID: 23512157
Patterns of brain injury in inborn errors of metabolism.
Gropman AL
Semin Pediatr Neurol 2012 Dec;19(4):203-10. doi: 10.1016/j.spen.2012.09.007. PMID: 23245553Free PMC Article
Magnetic resonance imaging and the detection of fetal brain anomalies, injury, and physiologic adaptations.
Girard N, Chaumoitre K, Confort-Gouny S, Viola A, Levrier O
Curr Opin Obstet Gynecol 2006 Apr;18(2):164-76. doi: 10.1097/01.gco.0000193002.58158.07. PMID: 16601478
Serine-deficiency syndromes.
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

Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.
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
Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases.
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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