Journal of Inherited Metabolic Disease

, Volume 28, Issue 6, pp 825–830 | Cite as

Social outcome in treated individuals with inherited metabolic disorders: UK study

  • M. Bhat
  • C. Haase
  • P. J. Lee


Few data exist on the long-term social outcome of patients with inherited metabolic disorders, despite the fact that increasing numbers are surviving into adulthood. Here we report the findings of 329 patients aged from 11 to 70 years, of whom 172 had phenylketonuria, 38 had homocystinuria and 33 had galactosaemia. Twenty-eight per cent had no formal education qualifications, 59% were employed, but only 17% were in professional jobs (social classes I and II). The time of diagnosis and treatment had a significant impact on outcome in phenylketonuria, as did pyridoxine responsiveness or lack of it in homocystinuria. Effects on outcome in galactosaemia were not clear. Social integration is an important outcome of treatment of chronic disorders in childhood and warrants further study in this growing patient population.


Public Health Internal Medicine Patient Population Metabolic Disease Treated Individual 
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Copyright information

© SSIEM and Springer 2005

Authors and Affiliations

  1. 1.The National Hospital for Neurology & NeurosurgeryThe Charles Dent Metabolic UnitLondonUK

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