Skip to main content
SpringerLink
Log in

Neuropsychometric outcome predictors for adults with maple syrup urine disease

  • Short Report
  • Published:
Journal of Inherited Metabolic Disease

Summary

We describe 14 adult MSUD patients (3 with intermediate MSUD) with varied clinical and neuropsychometric outcomes. Age at diagnosis appears to be a predictor of IQ even in adults, while long-term blood leucine does not correlate with IQ.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Hilliges C, Awiszus D, Wendel U (1993) Intellectual performance of children with maple syrup urine disease. Eur J Pediatr 152: 144–147.

    Article  CAS  PubMed  Google Scholar 

  • Leonard JV, Daish P, Naughten ER, Bartlett K (1984) The management and long-term outcome of organic acidaemias. J Inherit Metab Dis 7 (Supplement 1): 13–17.

    PubMed  Google Scholar 

  • Naughten ER, Jenkins J, Francis DE, Leonard JV (1982) Outcome of maple syrup urine disease. Arch Dis Child 57: 918–921.

    CAS  PubMed  Google Scholar 

  • Nord A, van Doorninck WJ, Greene C (1991) Developmental profile of patients with maple syrup urine disease. J Inherit Metab Dis 14: 881–889.

    Article  CAS  PubMed  Google Scholar 

  • Rousson R, Guibaud P (1984) Long term outcome of organic acidurias: survey of 105 French cases (1967–1983). J Inherit Metab Dis 7(Supplement 1): 10–12.

    PubMed  Google Scholar 

  • Schonberg S, Schweiger B, Schwahn B, Schwarz M, Wendel U (2004) Dysmyelination in the brain of adoelscents and young adults with maple syrup urine disease. Mol Genet Metab 82: 69–75.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK

    C. le Roux, E. Murphy, P. Hallam, M. Lilburn, D. Orlowska & P. Lee

Authors
  1. C. le Roux
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. E. Murphy
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. P. Hallam
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. M. Lilburn
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. D. Orlowska
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. P. Lee
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to P. Lee.

Additional information

Communicating editor: Garry Brown

Competing interests: None declared

Rights and permissions

Reprints and permissions

About this article

Cite this article

le Roux, C., Murphy, E., Hallam, P. et al. Neuropsychometric outcome predictors for adults with maple syrup urine disease. J Inherit Metab Dis 29, 201–202 (2006). https://doi.org/10.1007/s10545-006-0223-1

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10545-006-0223-1

Keywords

Search

Navigation