Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
권호 표지

Inherited Metabolic Disorders Involving the Nervous System

신경계 이상을 동반하는 선천성 대사 질환

  • Jeesuk Yu (Department of Pediatrics, Dankook University Hospital, Dankook University College of Medicine)
  • 유지숙 (단국대학교 의과대학 소아청소년과학교실)
  • Published : 2023.12.31
Download PDF
⟨ Previous Next ⟩

Abstract

Inherited metabolic disorders (IMD) are a group of disorders caused by defects in specific biochemical pathways. Up to 85% of IMD display predominantly neurological manifestations by affecting neurodevelopment or causing neurodegeneration. These neurometabolic disorders present with a variety of neurological and non-neurological manifestations. Early diagnosis of IMD is important because some disorders can be treated or improved with specific treatment if detected early. For prompt diagnosis and treatment, it is important to suspect IMD by being familiar with the clinical characteristics, biochemical abnormalities, and characteristic neuroimaging patterns that appear in IMD. Genetic testing, including next-generation sequencing, is also important in diagnosing IMD. During the follow-up of patients with IMD, it is necessary to conduct regular physical and neurological examinations in addition to disease-specific management.

Keywords

References

  1. Saudubray JM, Garcia-Cazorla A. An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders. Dialogues Clin Neurosci 2018;20:301-25.  https://doi.org/10.31887/DCNS.2018.20.4/jmsaudubray
  2. Rahman J, Rahman S. The utility of phenomics in diagnosis of inherited metabolic disorders. Clin Med (Lond). 2019;19:30-6.  https://doi.org/10.7861/clinmedicine.19-1-30
  3. Biswas A, Malhotra M, Mankad K, Carney O, D'Arco F, Muthusamy K, et al. Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders-a practical introductory guide. Transl Pediatr 2021;10:1201-30.  https://doi.org/10.21037/tp-20-335
  4. Gouider-Khouja N, Kraoua I, Benrhouma H, Fraj N, Rouissi A. Movement disorders in neuro-metabolic diseases. Eur J Paediatr Neurol 2010;14:304-7.  https://doi.org/10.1016/j.ejpn.2009.11.005
  5. Ortigoza-Escobar JD. A proposed diagnostic algorithm for inborn errors of metabolism presenting with movements disorders. Front Neurol 2020;11:582160. 
  6. Levy PA. Inborn errors of metabolism: part 1: overview. Pediatr Rev 2009;30:131-7.  https://doi.org/10.1542/pir.30.4.131
  7. Cleary MA, Green A. Developmental delay: when to suspect and how to investigate for an inborn error of metabolism. Arch Dis Child 2005;90:1128-32.  https://doi.org/10.1136/adc.2005.072025
  8. Koens LH, de Vries JJ, Vansenne F, de Koning TJ, Tijssen MAJ. How to detect late-onset inborn errors of metabolism in patients with movement disorders - A modern diagnostic approach. Parkinsonism Relat Disord 2021;85:124-32.  https://doi.org/10.1016/j.parkreldis.2021.02.029
  9. Saudubray JM, Garcia-Cazorla A. Inborn errors of metabolism overview: pathophysiology, manifestations, evaluation, and management. Pediatr Clin North Am 2018;65:179-208.  https://doi.org/10.1016/j.pcl.2017.11.002
  10. van Karnebeek CDM, Stockler S. Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review. Mol Genet Metab 2012;105:368-81.  https://doi.org/10.1016/j.ymgme.2011.11.191
  11. Rahman S, Footitt EJ, Varadkar S, Clayton PT. Inborn errors of metabolism causing epilepsy. Dev Med Child Neurol 2013;55:23-36. 
  12. Wolf NI, Bast T, Surtees R. Epilepsy in inborn errors of metabolism. Epileptic Disord 2005;7:67-81.  https://doi.org/10.1684/j.1950-6945.2005.tb00106.x
  13. Sharma S, Prasad AN. Inborn errors of metabolism and epilepsy: current uderstanding, dagnosis, and teatment aproaches. Int J Mol Sci 2017;18:1384. 
  14. Hundallah K, Tabarki B. Treatable inherited metabolic epilepsies. Neurosciences (Riyadh) 2021;26:229-35.  https://doi.org/10.17712/nsj.2021.3.20210077
  15. Tumiene B, Ferreira CR, van Karnebeek CDM. 2022 Overview of Metabolic Epilepsies. Genes (Basel) 2022;13:508. 
  16. Almannai M, Al Mahmoud RA, Mekki M, El-Hattab AW. Metabolic seizures. Front Neurol 2021;12:640371. 
  17. van Karnebeek CDM, Sayson B, Lee JJY, Tseng LA, Blau N, Horvath GA, et al. Metabolic evaluation of epilepsy: A diagnostic algorithm with focus on treatable conditions. Front Neurol 2018;9:1016. 
  18. Leach EL, Shevell M, Bowden K, Stockler-Ipsiroglu S, van Karnebeek CD. Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review. Orphanet J Rare Dis 2014;9:197. 
  19. Ebrahimi-Fakhari D, Saffari A, Pearl PL. Childhood-onset hereditary spastic paraplegia and its treatable mimics. Mol Genet Metab 2022;137:436-44.  https://doi.org/10.1016/j.ymgme.2021.06.006
  20. Hakami WS, Hundallah KJ, Tabarki BM. Metabolic and genetic disorders mimicking cerebral palsy. Neurosciences (Riyadh) 2019;24:155-63.  https://doi.org/10.17712/nsj.2019.3.20190045
  21. Saini AG, Sharma S. Movement disorders in inherited metabolic diseases in children. Ann Indian Acad Neurol 2020;23:332-7.  https://doi.org/10.4103/aian.AIAN_612_19
  22. Christensen CK, Walsh L. Movement disorders and neurometabolic diseases. Semin Pediatr Neurol 2018;25:82-91.  https://doi.org/10.1016/j.spen.2018.02.003
  23. Parker CC, Evans OB. Metabolic disorders causing childhood ataxia. Semin Pediatr Neurol 2003;10:193-9.  https://doi.org/10.1016/S1071-9091(03)00028-7
  24. Bremova-Ertl T, Hofmann J, Stucki J, Vossenkaul A, Gautschi M. Inborn errors of metabolism with ataxia: Current and future treatment options. Cells 2023;12:2314. 
  25. Kaminiow K, Rygula I, Paprocka J. Ataxia in neurometabolic disorders. Metabolites 2023;13:47. 
  26. Silver G, Mercimek-Andrews S. Inherited metabolic disorders presenting with ataxia. Int J Mol Sci 2020;21:5519. 
  27. Kuiper A, Eggink H, Tijssen MA, de Koning TJ. Neurometabolic disorders are treatable causes of dystonia. Rev Neurol (Paris) 2016;172:455-64.  https://doi.org/10.1016/j.neurol.2016.07.011
  28. Koens LH, Tijssen MAJ, Lange F, Wolffenbuttel BHR, Rufa A, Zee DS, et al. Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism. Mov Disord 2018;33:1844-56.  https://doi.org/10.1002/mds.27484
  29. Kassavetis P, Kaski D, Anderson T, Hallett M. Eye Movement Disorders in Movement Disorders. Mov Disord Clin Pract. 2022 Feb 16;9:284-95. 
  30. van Karnebeek CDM, Shevell M, Zschocke J, Moeschler JB, Stockler S. The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource. Mol Genet Metab 2014;111:428-38.  https://doi.org/10.1016/j.ymgme.2014.01.011
  31. Hoytema van Konijnenburg EMM, Wortmann SB, Koelewijn MJ, Tseng LA, Houben R, Stockler-Ipsiroglu S, et al. Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app. Orphanet J Rare Dis 2021;16:170. 
  32. Kempinska W, Korta K, Marchaj M, Paprocka J. Microcephaly in neurometabolic diseases. Children (Basel) 2022;9:97. 
  33. Bedkowska N, Zontek A, Paprocka J. Stroke-like episodes in inherited neurometabolic disorders. Metabolites 2022;12:929. 
  34. van de Burgt N, van Doesum W, Grevink M, van Niele S, de Koning T, Leibold N, Martinez-Martinez P, van Amelsvoort T, Cath D. Psychiatric manifestations of inborn errors of metabolism: A systematic review. Neurosci Biobehav Rev 2023;144:104970. 
  35. Herrera PM, Velez Van Meerbeke A, Bonnot O. Psychiatric disorders secondary to neurometabolic disorders. Rev Colomb Psiquiatr (Engl Ed) 2018;47:244-51. 
  36. BoAli AY, Alfadhel M, Tabarki B. Neurometabolic disorders and congenital malformations of the central nervous system. Neurosciences (Riyadh) 2018;23:97-103.  https://doi.org/10.17712/nsj.2018.2.20170481
  37. Jafari N, Golnik K, Shahriari M, Karimzadeh P, Jabbehdari S. Ophthalmologic findings in patients with neuro-metabolic disorders. J Ophthalmic Vis Res 2018;13:34-8.  https://doi.org/10.4103/jovr.jovr_242_16
  38. Falsaperla R, Sciuto L, La Spina L, Sciuto S, Pratico AD, Ruggieri M. Neonatal seizures as onset of inborn errors of metabolism (IEMs): from diagnosis to treatment. A systematic review. Metab Brain Dis 2021;36:2195-203.  https://doi.org/10.1007/s11011-021-00798-1
  39. Barbosa-Gouveia S, Vazquez-Mosquera ME, GonzalezVioque E, Alvarez JV, Chans R, Laranjeira F, et al. Utility of gene panels for the diagnosis of inborn errors of metabolism in a metabolic reference center. Genes (Basel) 2021;12:1262. 
  40. Willemsen MA, Harting I, Wevers RA. Neurometabolic disorders: Five new things. Neurol Clin Pract 2016;6:348-57.  https://doi.org/10.1212/CPJ.0000000000000266
  41. Gold NB, Adelson SM, Shah N, Williams S, Bick SL, Zoltick ES, et al. Perspectives of rare disease experts on newborn genome sequencing. JAMA Netw Open 2023;6:e2312231.