Skip to main content
×
×
Home

Adults with untreated phenylketonuria: out of sight, out of mind

  • Glynis H. Murphy (a1), Sally M. Johnson (a2), Allayne Amos (a1), Eleanor Weetch (a3), Rosemary Hoskin (a4), Brian Fitzgerald (a5), Maggie Lilburn (a6), Lesley Robertson (a6) and Philip Lee (a6)...
Summary

Some people with phenylketonuria who were born before screening began were never treated and are still alive. Here we report that far fewer people with untreated phenylketonuria were detected than are thought to exist (about 2000). The majority of those traced had high support needs, challenging behaviour and other symptoms of phenylketonuria. No significant differences were found between those who had or had not tried the phenylalanine-restricted diet. A randomised controlled trial is required to examine the effect of trying the low-phenylalanine diet for people with untreated phenylketonuria.

  • View HTML
    • Send article to Kindle

      To send this article to your Kindle, first ensure no-reply@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about sending to your Kindle. Find out more about sending to your Kindle.

      Note you can select to send to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be sent to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

      Find out more about the Kindle Personal Document Service.

      Adults with untreated phenylketonuria: out of sight, out of mind
      Available formats
      ×
      Send article to Dropbox

      To send this article to your Dropbox account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Dropbox.

      Adults with untreated phenylketonuria: out of sight, out of mind
      Available formats
      ×
      Send article to Google Drive

      To send this article to your Google Drive account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Google Drive.

      Adults with untreated phenylketonuria: out of sight, out of mind
      Available formats
      ×
Copyright
This is an Open Access article, distributed under the terms of the Creative Commons Attribution-NonCommercial licence (http://creativecommons.org/licenses/by-nc/4.0/), which permits noncommercial re-use, distribution, and reproduction in any medium, provided the original work is unaltered and is properly cited. The written permission of Cambridge University Press must be obtained for commercial re-use or in order to create a derivative work.
Corresponding author
Glynis H. Murphy, Tizard Centre, University of Kent, Canterbury CT2 7LZ, UK. Email: g.h.murphy@kent.ac.uk
Footnotes
Hide All

Declaration of interest

None. Funding detailed in Acknowledgements.

Footnotes
References
Hide All
1 Koch, R, de la Cruz, F.Historical aspects and overview of research on phenylketonuria. Ment Retard Dev Disabil Res Rev 1999; 5: 101–3.
2 Woolff, OH, Smith, I, Carson, N, Graham, PJ, Kromrower, GM, Turnbull, AC, Clayton, BE, Mahler, R, Sutherland, I. Routine neonatal screening for phenylketonuria in the United Kingdom 1964–1978. BMJ (Clin Res Ed) 1981; 282: 1680–4.
3 Waisbren, S, Schnell, RR, Levy, HL. Diet termination in children with phenylketonuria: a review of psychological assessments used to determine outcome. J Inherit Metab Dis 1980; 3: 149–53.
4 Howell, DC. Statistical Methods for Psychology (4th edn). Duxbury Press, 1997.
5 Brown, MCJ, Guest, JF. Economic impact of feeding a phenylalanine restricted diet to adults with previously untreated phenylketonuria. J Intellect Disabil Res 1999; 43: 30–7.
6 Jancar, J. Increased life expectancy in people with untreated phenylketonuria. J Intellect Disabil Res 1998; 42: 97–9.
7 Hoskin, RG, Sasitharan, T, Howard, R. The use of a low phenylalanine diet with amino acid supplement in the treatment of behaviour problems in a severely mentally retarded adult female with phenylketonuria. J Intellect Disabil Res 1992; 36: 183–91.
8 Yannicelli, S, Ryan, A. Improvements in behaviour and physical manifestations in previously untreated adults with phenylketonuria using a phenylalanine restricted diet: a national survey. J Inherit Metab Dis 1995; 18: 131–4.
9 Fitzgerald, B, Morgan, J, Keene, N, Rollinson, R, Hodgson, A, Dalrymple-Smith, J. An investigation into diet treatment for adults with previously untreated phenylketonuria and severe intellectual disability. J Intellect Disabil Res 2000; 44: 53–9.
10 Koch, R, Moseley, K, Ning, J, Romstad, A, Guldberg, P, Guttler, F. Long-term beneficial effects of the pheylalanine-restricted diet in late-diagnsoed individuals with phenylketonuria. Mol Genet Metab 1999; 67: 148–55.
Recommend this journal

Email your librarian or administrator to recommend adding this journal to your organisation's collection.

The British Journal of Psychiatry
  • ISSN: 0007-1250
  • EISSN: 1472-1465
  • URL: /core/journals/the-british-journal-of-psychiatry
Please enter your name
Please enter a valid email address
Who would you like to send this to? *
×

Metrics

Full text views

Total number of HTML views: 0
Total number of PDF views: 17 *
Loading metrics...

Abstract views

Total abstract views: 86 *
Loading metrics...

* Views captured on Cambridge Core between 2nd January 2018 - 21st May 2018. This data will be updated every 24 hours.

Adults with untreated phenylketonuria: out of sight, out of mind

  • Glynis H. Murphy (a1), Sally M. Johnson (a2), Allayne Amos (a1), Eleanor Weetch (a3), Rosemary Hoskin (a4), Brian Fitzgerald (a5), Maggie Lilburn (a6), Lesley Robertson (a6) and Philip Lee (a6)...
Submit a response

eLetters

No eLetters have been published for this article.

×

Reply to: Submit a response


Your details


Conflicting interests

Do you have any conflicting interests? *