Skip to main content

Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations

  • Chapter
Book cover Inborn Metabolic Diseases

Abstract

Late-onset forms of IEM presenting initially in adulthood are often unrecognised, so that their exact prevalence is unknown. Most often they have psychiatric or neurological manifestations, including atypical psychosis or depression, unexplained coma, peripheral neuropathy, cerebellar ataxia, spastic paraparesis, dementia, movement disorders and epilepsy [1–3].

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 159.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Gray RG, Preece MA, Green SH et al. (2000) Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation. J Neurol Neurosurg Psychiatry 69:5–12

    Article  PubMed  CAS  Google Scholar 

  2. Sedel F, Lyon-Caen O, Saudubray JM (2007) Therapy insight: inborn errors of metabolism in adult neurology – a clinical approach focused on treatable diseases. Nat Clin Pract Neurol 3:279–290

    Article  PubMed  CAS  Google Scholar 

  3. Saudubray JM, Sedel F (2009) Inborn errors of metabolism in adults. Ann Endocrinol 70:14–24

    Article  CAS  Google Scholar 

  4. Lee PJ, Lachmann RH (2008) Acute presentations of inherited metabolic disease in adulthood. Clin Med 8:621–624

    PubMed  Google Scholar 

  5. Sedel F, Saudubray JM, Roze E et al. (2008) Movement disorders and inborn errors of metabolism in adults: a diagnostic approach. J Inherit Metab Dis 31:308–318

    Article  PubMed  CAS  Google Scholar 

  6. McNeill A, Birchall D, Hayflick SJ et al. (2008) T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology 70:1614–1619

    Article  PubMed  CAS  Google Scholar 

  7. Sedel F, Barnerias C, Dubourg O et al. (2007) Peripheral neuropathy and inborn errors of metabolism in adults. J Inherit Metab Dis 30:642–653

    Article  PubMed  CAS  Google Scholar 

  8. Penno A, Reilly MM, Houlden H et al. (2010) Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. J Biol Chem 285:11178–11187

    Article  PubMed  CAS  Google Scholar 

  9. Baumann N, Turpin JC (2000) Adult-onset leukodystrophies. J Neurol 247:751–759

    Article  PubMed  CAS  Google Scholar 

  10. Schiffmann R, Van Der Knaap MS (2009) An MRI-based approach to the diagnosis of white matter disorders (invited article). Neurology 72:750–759

    Article  PubMed  Google Scholar 

  11. Sedel F, Tourbah A, Fontaine B et al. (2008) Leukoencephalopathies associated with Inborn Errors of Metabolism in adults: a diagnostic approach. J Inherit Metab Dis 31:295–307

    Article  PubMed  CAS  Google Scholar 

  12. Sedel F, Gourfinkel-An I, Lyon-Caen I et al. (2007) Epilepsy and inborn errors of metabolism in adults : a diagnostic approach. J Inherit Metab Dis 30:846–854

    Article  PubMed  CAS  Google Scholar 

  13. Sedel F, Baumann N, Turpin JC et al. (2007) Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults. J Inherit Metab Dis 30:631–641

    Article  PubMed  CAS  Google Scholar 

  14. Mallott D (2009) The intersection of psychiatric diagnosis and inherited metabolic disease. Mol Genet Metab 97:239–240

    Article  PubMed  CAS  Google Scholar 

  15. Depienne C, Stevanin G, Brice A, Durr A (2007) Hereditary spastic paraplegias: an update. Curr Opin Neurol 20:674–680

    Article  PubMed  CAS  Google Scholar 

  16. Sedel F, Fontaine B, Saudubray B, Lyon-Caen O (2007) Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: a diagnostic approach. J Inherit Metab Dis 30:855–854

    Article  PubMed  CAS  Google Scholar 

  17. Kono S, Miyajima H, Yoshida K et al. (2009) Mutations in a thiamine-transporter gene and Wernicke’s-like encephalopathy. N Engl J Med 360:1792–1794

    Article  PubMed  CAS  Google Scholar 

  18. Berardo A, DiMauro S, Hirano M (2010) A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep 10:118–126

    Article  PubMed  CAS  Google Scholar 

  19. Laforêt P, Vianey-Saban C (2010) Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges. Neuromusc Disord 20:693–700

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2012 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Sedel, F. (2012). Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations. In: Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-15720-2_2

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-15720-2_2

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-15719-6

  • Online ISBN: 978-3-642-15720-2

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics