{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T08:51:28Z","timestamp":1788425488568,"version":"build-2803163510"},"reference-count":29,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,5,8]],"date-time":"2012-05-08T00:00:00Z","timestamp":1336435200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J intellect Disabil Res"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>Background\u2003<\/jats:bold> To quantify the costs and consequences of managing phenylketonuria (PKU) in the UK and to estimate the potential implications to the UK's National Health Service (NHS) of keeping patients on a phenylalanine\u2010restricted diet for life.<\/jats:p><jats:p><jats:bold>Methods\u2003<\/jats:bold> A computer\u2010based model was constructed depicting the management of PKU patients over the first 36 years of their life, derived from patients suffering from this metabolic disorder in The Health Improvement Network database (a nationally representative database of patients registered with general practitioners in the UK). The model was used to estimate the incidence of co\u2010morbidities and the levels of healthcare resource use and corresponding costs over the 36 years.<\/jats:p><jats:p><jats:bold>Results\u2003<\/jats:bold> Patients who remained on a phenylalanine\u2010restricted diet accounted for 38% of the cohort. Forty\u2010seven per cent of patients discontinued their phenylalanine\u2010restricted diet between 15 and 25 years of age. Of these, 73% remained off diet and 27% restarted a restricted diet at a mean 30 years of age. Fifteen per cent of the cohort had untreated PKU. Eleven per cent of patients who remained on a phenylalanine\u2010restricted diet for 36 years received the optimum amount of prescribed amino acid supplements. Patients had a mean 12 general practitioner visits per year and one hospital outpatient visit annually, but phenylalanine levels were only measured once every 18 to 24 months. The mean NHS cost (at 2007\/08 prices) of managing a PKU sufferer over the first 36 years of their life was estimated to range between \u00a321\u2003000 and \u00a3149\u2003000, depending on the amount of prescribed nutrition they received.<\/jats:p><jats:p><jats:bold>Conclusion\u2003<\/jats:bold> The findings suggest that the majority of patients with PKU were under\u2010treated. The NHS cost of patient management should not be an obstacle to encouraging patients to remain on a restricted diet until further information becomes available about the long\u2010term clinical impact of stopping such a diet. Nevertheless, patients require counselling and managed follow up regardless of the choices they make about their diet.<\/jats:p>","DOI":"10.1111\/j.1365-2788.2012.01568.x","type":"journal-article","created":{"date-parts":[[2012,5,8]],"date-time":"2012-05-08T09:57:24Z","timestamp":1336471044000},"page":"567-579","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Costs and outcomes over 36 years of patients with phenylketonuria who do and do not remain on a phenylalanine\u2010restricted diet"],"prefix":"10.1111","volume":"57","author":[{"given":"J. F.","family":"Guest","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. J.","family":"Bai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. 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