{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T05:52:36Z","timestamp":1771307556098,"version":"3.50.1"},"reference-count":38,"publisher":"Cambridge University Press (CUP)","issue":"2","license":[{"start":{"date-parts":[[2011,4,5]],"date-time":"2011-04-05T00:00:00Z","timestamp":1301961600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Br J Nutr"],"published-print":{"date-parts":[[2011,7,28]]},"abstract":"<jats:p>The usual treatment for phenylketonuria (PKU) is a phenylalanine-restricted diet. Following this diet is challenging, and long-term adherence (and hence metabolic control) is commonly poor. Patients with PKU (usually, but not exclusively, with a relatively mild form of the disorder) who are responsive to treatment with pharmacological doses of tetrahydrobiopterin (BH<jats:sub>4<\/jats:sub>) have either lower concentrations of blood phenylalanine or improved dietary phenylalanine tolerance. The availability of a registered formulation of BH<jats:sub>4<\/jats:sub>(sapropterin dihydrochloride, Kuvan<jats:sup>\u00ae<\/jats:sup>) has raised many practical issues and new questions in the dietary management of these patients. Initially, patients and carers must understand clearly the likely benefits (and limitations) of sapropterin therapy. A minority of patients who respond to sapropterin are able to discontinue the phenylalanine-restricted diet completely, while others are able to relax the diet to some extent. Care is required when altering the phenylalanine-restricted diet, as this may have unintended nutritional consequences and must be undertaken with caution. New clinical protocols are required for managing any dietary change while maintaining control of blood phenylalanine, ensuring adequate nutrition and preventing nutritional deficiencies, overweight or obesity. An accurate initial evaluation of pre-sapropterin phenylalanine tolerance is essential, and the desired outcome from treatment with sapropterin (e.g. reduction in blood phenylalanine or relaxation in diet) must also be understood by the patient and carers from the outset. Continuing education and support will be required thereafter, with further adjustment of diet and sapropterin dosage as a young patient grows.<\/jats:p>","DOI":"10.1017\/s0007114511000298","type":"journal-article","created":{"date-parts":[[2011,4,5]],"date-time":"2011-04-05T12:40:03Z","timestamp":1302007203000},"page":"175-182","source":"Crossref","is-referenced-by-count":22,"title":["Adjusting diet with sapropterin in phenylketonuria: what factors should be considered?"],"prefix":"10.1017","volume":"106","author":[{"given":"Anita","family":"MacDonald","sequence":"first","affiliation":[]},{"given":"Kirsten","family":"Ahring","sequence":"additional","affiliation":[]},{"given":"Katharina","family":"Dokoupil","sequence":"additional","affiliation":[]},{"given":"Hulya","family":"Gokmen-Ozel","sequence":"additional","affiliation":[]},{"given":"Anna Maria","family":"Lammardo","sequence":"additional","affiliation":[]},{"given":"Kristina","family":"Motzfeldt","sequence":"additional","affiliation":[]},{"given":"Martine","family":"Robert","sequence":"additional","affiliation":[]},{"given":"J\u00falio","family":"C\u00e9sar Rocha","sequence":"additional","affiliation":[]},{"given":"Margreet","family":"van Rijn","sequence":"additional","affiliation":[]},{"given":"Amaya","family":"B\u00e9langer-Quintana","sequence":"additional","affiliation":[]}],"member":"56","published-online":{"date-parts":[[2011,4,5]]},"reference":[{"key":"S0007114511000298_ref20","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.06.007"},{"key":"S0007114511000298_ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.06.026"},{"key":"S0007114511000298_ref27","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9224-1"},{"key":"S0007114511000298_ref33","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9216-1"},{"key":"S0007114511000298_ref17","first-page":"67","volume-title":"Nutrition Management of Patients with Inherited Metabolic Disorders","author":"Acosta","year":"2010"},{"key":"S0007114511000298_ref36","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2004.tb00849.x"},{"key":"S0007114511000298_ref34","first-page":"25","article-title":"Effect of BH4 on phe\/tyr ratio and fluctuations in phe levels in BH4 responsiveness PKU patients","volume":"98","author":"Humphrey","year":"2009","journal-title":"Mol Genet Metab"},{"key":"S0007114511000298_ref31","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000031099.79046.65"},{"key":"S0007114511000298_ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.09.014"},{"key":"S0007114511000298_ref37","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32562"},{"key":"S0007114511000298_ref10","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-9002-0"},{"key":"S0007114511000298_ref15","first-page":"24","article-title":"PKU treatment with tetrhydrobiopterin (sapropterin) during pregnancy","volume":"98","author":"Cunningham","year":"2009","journal-title":"Mol Genet Metab"},{"key":"S0007114511000298_ref12","doi-asserted-by":"publisher","DOI":"10.1157\/13084174"},{"key":"S0007114511000298_ref26","doi-asserted-by":"publisher","DOI":"10.1097\/01.TIN.0000318911.54358.a1"},{"key":"S0007114511000298_ref13","doi-asserted-by":"crossref","first-page":"1566","DOI":"10.1542\/peds.112.S4.1566","article-title":"Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria","volume":"112","author":"Trefz","year":"2003","journal-title":"Pediatrics"},{"key":"S0007114511000298_ref38","unstructured":"38 Fernhoff PM , Burton BK & Nowacka M (2009) PKU-008: A Long-term, Open-label Study of Sapropterin Dihydrochloride (Kuvan\u00ae) in PKU subjects Abstract no. 190 presented at the 2009 Meeting of the American College of Medical Genetics. http:\/\/submissions.miracd.com\/acmg\/ContentInfo.aspx?conID\u00a0=\u00a01135 (accessed February 2010)."},{"key":"S0007114511000298_ref3","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0605-z"},{"key":"S0007114511000298_ref18","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.06.008"},{"key":"S0007114511000298_ref6","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2009-3584"},{"key":"S0007114511000298_ref1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(07)61234-3"},{"key":"S0007114511000298_ref25","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.05.014"},{"key":"S0007114511000298_ref35","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9043-4"},{"key":"S0007114511000298_ref14","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-2783"},{"key":"S0007114511000298_ref28","unstructured":"28 WHO\/FAO\/UNU (2010) Protein and Amino Acid Requirements in Human Nutrition. 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