U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease.
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
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
X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies.
Turk BR, Theda C, Fatemi A, Moser AB
Int J Dev Neurosci 2020 Feb;80(1):52-72. Epub 2020 Jan 26 doi: 10.1002/jdn.10003. PMID: 31909500Free PMC Article

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
Brain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases.
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
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

Ethylmalonic encephalopathy masquerading as meningococcemia.
Horton A, Hong KM, Pandithan D, Allen M, Killick C, Goergen S, Springer A, Phelan D, Marty M, Halligan R, Lee J, Pitt J, Chong B, Christodoulou J, Lunke S, Stark Z, Fahey M
Cold Spring Harb Mol Case Stud 2022 Feb;8(2) Epub 2022 Mar 24 doi: 10.1101/mcs.a006193. PMID: 35165146Free PMC Article
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
Brain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases.
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

Therapy

A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduria.
Phua YL, D'Annibale OM, Karunanidhi A, Mohsen AW, Kirmse B, Dobrowolski SF, Vockley J
Mol Genet Metab 2024 Jul;142(3):108495. Epub 2024 May 15 doi: 10.1016/j.ymgme.2024.108495. PMID: 38772223
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
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
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
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

Clinical prediction guides

Newborn screening for neuro-metabolic disorders: Strategies, clinical benefits, and prerequisites for program expansion.
Mütze U, Scharré S, Schnabel-Besson E, Kuseyri Hübschmann O, Höster F, Tuncel AT, Kölker S, Opladen T
Eur J Paediatr Neurol 2025 May;56:84-96. Epub 2025 Apr 24 doi: 10.1016/j.ejpn.2025.03.017. PMID: 40339400
Impaired brain glucose metabolism as a biomarker for evaluation of dodecyl creatine ester in creatine transporter deficiency: Insights from patient brain-derived organoids and in vivo [18F]FDG PET imaging in a mouse model.
Disdier C, Soyer A, Broca-Brisson L, Goutal S, Guyot AC, Ziani N, Breuil L, Winkeler A, Hugon G, Joudinaud T, Bénech H, Armengaud J, Skelton MR, Harati R, Hamoudi RA, Tournier N, Mabondzo A
Neurobiol Dis 2024 Nov;202:106720. Epub 2024 Oct 26 doi: 10.1016/j.nbd.2024.106720. PMID: 39490685
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
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
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

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...