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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

Newborn Screening Has Moved Way Beyond PKU.
Eisenhauer E
J Obstet Gynecol Neonatal Nurs 2024 May;53(3):207-212. Epub 2024 Apr 4 doi: 10.1016/j.jogn.2024.03.004. PMID: 38583485
Is More Effective Newborn Screening for Homocystinuria on the Horizon?
Levy HL, Sahai I
Clin Chem 2023 Apr 28;69(5):433-434. doi: 10.1093/clinchem/hvad027. PMID: 36949665
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

Recent clinical studies

Etiology

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
Motor neuron disease in inherited neurometabolic disorders.
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
Creatine Defects and Central Nervous System.
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
What is new for monoamine neurotransmitter disorders?
Marecos C, Ng J, Kurian MA
J Inherit Metab Dis 2014 Jul;37(4):619-26. Epub 2014 Apr 3 doi: 10.1007/s10545-014-9697-4. PMID: 24696406
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

Diagnosis

Leukodystrophies.
Waldman AT
Continuum (Minneap Minn) 2018 Feb;24(1, Child Neurology):130-149. doi: 10.1212/CON.0000000000000560. PMID: 29432240
Neurometabolic disorders.
Saudubray JM
J Inherit Metab Dis 2009 Oct;32(5):595. doi: 10.1007/s10545-009-9958-9. PMID: 19757144
Genetics and epilepsy.
Steinlein OK
Dialogues Clin Neurosci 2008;10(1):29-38. doi: 10.31887/DCNS.2008.10.1/oksteinlein. PMID: 18472482Free PMC Article
Acute metabolic encephalopathy: an introduction.
Leonard JV
J Inherit Metab Dis 2005;28(3):403-6. doi: 10.1007/s10545-005-8047-y. PMID: 15868472
An update on the leukodsytrophies.
Schiffmann R, Boespflüg-Tanguy O
Curr Opin Neurol 2001 Dec;14(6):789-94. doi: 10.1097/00019052-200112000-00018. PMID: 11723390

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
Dodecyl creatine ester therapy: from promise to reality.
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
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).
Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC
Curr Neurol Neurosci Rep 2013 Apr;13(4):342. doi: 10.1007/s11910-013-0342-7. PMID: 23443458
Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.
Tiranti V, Zeviani M
Cold Spring Harb Perspect Biol 2013 Jan 1;5(1):a011437. doi: 10.1101/cshperspect.a011437. PMID: 23284046Free PMC Article
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

Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.
Abdennadher M, Inati SK, Rahhal S, Khan O, Bartolini L, Thurm A, Theodore W, Miller JS, Porter FD, Bianconi S
Am J Med Genet A 2024 Feb;194(2):337-345. Epub 2023 Oct 18 doi: 10.1002/ajmg.a.63418. PMID: 37850681
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
Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency.
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
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
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

Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.
Abdennadher M, Inati SK, Rahhal S, Khan O, Bartolini L, Thurm A, Theodore W, Miller JS, Porter FD, Bianconi S
Am J Med Genet A 2024 Feb;194(2):337-345. Epub 2023 Oct 18 doi: 10.1002/ajmg.a.63418. PMID: 37850681
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
Mechanisms of neurodegeneration in Huntington's disease.
Gil JM, Rego AC
Eur J Neurosci 2008 Jun;27(11):2803-20. doi: 10.1111/j.1460-9568.2008.06310.x. PMID: 18588526
Leukoencephalopathies associated with inborn errors of metabolism in adults.
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
Regulation of the mitochondrial ATP-synthase in health and disease.
Das AM
Mol Genet Metab 2003 Jun;79(2):71-82. doi: 10.1016/s1096-7192(03)00069-6. PMID: 12809636

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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