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Journal of Inherited Metabolic Disease

, Volume 29, Issue 1, pp 190–194 | Cite as

The longest-surviving patient with classical maple syrup urine disease

  • Carel le Roux
  • Elaine Murphy
  • Maggie Lilburn
  • Philip J. Lee
Short Report

Summary

The clinical problems, dietary management and biochemical monitoring over a 40-year period of the longest-surviving patient with maple syrup urine disease are described. Her case illustrates that a good outcome can be obtained with early diagnosis and institution of a diet restricted in branched-chain amino acids. Changes in dietary supplementation have benefited her in terms of nutrition and quality of life. Consistently high blood concentrations of branched-chain amino acids have not been associated with neuropsychometric decline.

Keywords

Public Health Internal Medicine Metabolic Disease Early Diagnosis Dietary Supplementation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© SSIEM and Springer 2006

Authors and Affiliations

  • Carel le Roux
    • 1
  • Elaine Murphy
    • 1
  • Maggie Lilburn
    • 1
  • Philip J. Lee
    • 1
  1. 1.Charles Dent Metabolic UnitNational Hospital for Neurology and NeurosurgeryLondonUK

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