{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T05:15:31Z","timestamp":1783142131539,"version":"3.54.6"},"reference-count":60,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T00:00:00Z","timestamp":1782950400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008484","name":"Biomarin","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nutrients"],"abstract":"<jats:p>Background\/Objectives: In phenylketonuria (PKU), high blood phenylalanine (Phe) levels during pregnancy negatively influence foetal organogenesis and growth, leading to maternal PKU syndrome. Pregnancies must be carefully planned in order to maintain blood Phe levels \u2264 360 \u00b5mol\/L pre-conception and throughout pregnancy. Our aim was to study metabolic control in PKU pregnancies across Europe. Methods: Eleven centres managing PKU participated. Data on blood Phe levels (\u00b5mol\/L), natural protein intake (g\/day), protein substitute intake (g\/day) and maternal weight (kg) during pregnancy were collected retrospectively from dietetic records between 2012 and 2018. Results: In total, 84 female patients with PKU, accounting for 102 pregnancies (mean age: 30.4 \u00b1 4.8 years), participated. Of these, 7 had hyperphenylalaninemia (HPA), 26 had mild PKU, 55 had classical PKU and 14 were unclassified. Sapropterin was prescribed in two pregnancies. Only 27% (28\/102) of pregnancies successfully achieved consistent blood Phe levels \u2264 360 \u00b5mol\/L for at least 2 weeks pre-conception. During pregnancy, 88% of blood Phe levels were \u2264360 \u00b5mol\/L, with a mean Phe of 229 \u00b1 65 \u00b5mol\/L. The mean number of blood Phe samples was 60 (1.5 per week) per pregnancy. In pre-pregnancy, over a mean of 2.9 years, only 35% of blood Phe levels were \u2264360 \u00b5mol\/L and 61% were &lt;600 \u00b5mol\/L. Post-pregnancy, over a mean of 2.8 years, 43% of Phe levels were &lt;600 \u00b5mol\/L with mean Phe 462 \u00b1 226 \u00b5mol\/L and 724 \u00b1 230 \u00b5mol\/L, respectively. 25% (25\/102) had no levels performed post-pregnancy (mean of 2.8 \u00b1 1.6 years) compared to 7% (7\/102) pre-pregnancy (mean of 2.9 \u00b1 1.5 years). Mean prescribed Phe intake pre-\/during\/post-pregnancy was 810 \u00b1 721 vs. 787 \u00b1 552 vs. 1110 \u00b1 722 mg\/day. Natural protein intake was 17 \u00b1 15 vs. 17 \u00b1 11 vs. 23 \u00b1 15 g\/day. Protein equivalent from protein substitute intake was 57 \u00b1 21 vs. 66 \u00b1 16 vs. 50 \u00b1 23 g\/day and total protein remained stable, 73 \u00b1 14 vs. 83 \u00b1 14 vs. 71 \u00b1 19 g\/day (1.1 \u00b1 0.3 vs. 1.1 \u00b1 0.4 vs. 1.0 \u00b1 0.4 g\/kg\/day). Conclusions: Although a high level of metabolic control was maintained during pregnancy, fewer than 30% of pregnancies achieved constant Phe levels \u2264 360 \u00b5mol\/L prior to conception, with minimal monitoring post-pregnancy. The long-term impact on the offspring remains unknown and requires further investigation.<\/jats:p>","DOI":"10.3390\/nu18132136","type":"journal-article","created":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T10:04:44Z","timestamp":1782986684000},"page":"2136","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["How Well Is Blood Phenylalanine Controlled in Maternal PKU in Europe? Results from 102 Pregnancies"],"prefix":"10.3390","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8206-0829","authenticated-orcid":false,"given":"Alex","family":"Pinto","sequence":"first","affiliation":[{"name":"Birmingham Children\u2019s Hospital, Steelhouse Lane, Birmingham B4 6NH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6518-2226","authenticated-orcid":false,"given":"Kirsten","family":"Ahring","sequence":"additional","affiliation":[{"name":"Departments of Paediatrics and Clinical Genetics, PKU Clinic, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1683-1314","authenticated-orcid":false,"given":"Manuela Ferreira","family":"Almeida","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica M\u00e9dica, Unidade Local de Sa\u00fade de Santo Ant\u00f3nio, E.P.E. (ULSSA), 4099-028 Porto, Portugal"},{"name":"Reference Centre of Inherited Metabolic Diseases, Unidade Local de Sa\u00fade de Santo Ant\u00f3nio, E.P.E. (ULSSA), 4099-001 Porto, Portugal"},{"name":"Unit for Multidisciplinary Research in Biomedicine, ITR\u2014Laboratory for Integrative and Translational Research in Population Health, Abel Salazar Institute of Biomedical Sciences, ICBAS\u2014School of Medicine and Biomedical Sciences, University of Porto-UMIB\/ICBAS\/UP, 4050-313 Porto, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Ashmore","sequence":"additional","affiliation":[{"name":"Birmingham Children\u2019s Hospital, Steelhouse Lane, Birmingham B4 6NH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Bailey","sequence":"additional","affiliation":[{"name":"All Wales Inherited Metabolic Disease Service, University Hospital of Wales, Heath Park Way, Cardiff CF14 4XW, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0102-8956","authenticated-orcid":false,"given":"Amaya","family":"B\u00e9langer-Quintana","sequence":"additional","affiliation":[{"name":"Unidad de Enfermedades Metab\u00f3licas Cong\u00e9nitas, Hospital Universitario Ram\u00f3n y Cajal, 28034 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7724-137X","authenticated-orcid":false,"given":"Alberto","family":"Burlina","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, Department of Women\u2019s and Children\u2019s Health, University Hospital, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duncan","family":"Cole","sequence":"additional","affiliation":[{"name":"All Wales Inherited Metabolic Disease Service, University Hospital of Wales, Heath Park Way, Cardiff CF14 4XW, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clare","family":"Dale","sequence":"additional","affiliation":[{"name":"University Hospital Birmingham, National Health Service (NHS) Foundation Trust, Mindelsohn Way, Birmingham B15 2GW, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2579-8699","authenticated-orcid":false,"given":"Anne","family":"Daly","sequence":"additional","affiliation":[{"name":"Birmingham Children\u2019s Hospital, Steelhouse Lane, Birmingham B4 6NH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"van Dam","sequence":"additional","affiliation":[{"name":"Division of Metabolic Diseases, Beatrix Children\u2019s Hospital, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9621-6468","authenticated-orcid":false,"given":"Charlotte","family":"Dawson","sequence":"additional","affiliation":[{"name":"University Hospital Birmingham, National Health Service (NHS) Foundation Trust, Mindelsohn Way, Birmingham B15 2GW, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7654-3621","authenticated-orcid":false,"given":"Sharon","family":"Evans","sequence":"additional","affiliation":[{"name":"Birmingham Children\u2019s Hospital, Steelhouse Lane, Birmingham B4 6NH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7257-700X","authenticated-orcid":false,"given":"Sarah","family":"Firman","sequence":"additional","affiliation":[{"name":"Guy\u2019s & St Thomas\u2019 NHS Foundation Trust, Westminster Bridge Rd, London SE1 7EH, 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Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Howe","sequence":"additional","affiliation":[{"name":"University Hospital Birmingham, National Health Service (NHS) Foundation Trust, Mindelsohn Way, Birmingham B15 2GW, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6518-0255","authenticated-orcid":false,"given":"Fatma","family":"Ilgaz","sequence":"additional","affiliation":[{"name":"Department of Nutrition and Dietetics, Faculty of Health Sciences, Hacettepe University, 06100 Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5924-2034","authenticated-orcid":false,"given":"Christian","family":"Loro","sequence":"additional","affiliation":[{"name":"Division of Dietetic and Clinical Nutrition, Department of Medicine (DIMED), University Hospital of Padua, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"McStravick","sequence":"additional","affiliation":[{"name":"The Royal Hospitals Belfast, Belfast Health and Social Care Trust, Grosvenor Road, Belfast BT12 6BA, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0366-821X","authenticated-orcid":false,"given":"Radha","family":"Ramachandran","sequence":"additional","affiliation":[{"name":"Guy\u2019s & St Thomas\u2019 NHS Foundation Trust, Westminster Bridge Rd, London SE1 7EH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie","family":"Rawlins","sequence":"additional","affiliation":[{"name":"Guy\u2019s & St Thomas\u2019 NHS Foundation Trust, Westminster Bridge Rd, London SE1 7EH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5127-8454","authenticated-orcid":false,"given":"Louise","family":"Robertson","sequence":"additional","affiliation":[{"name":"University Hospital Birmingham, National Health Service (NHS) Foundation Trust, Mindelsohn Way, Birmingham B15 2GW, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4977-8345","authenticated-orcid":false,"given":"J\u00falio C\u00e9sar","family":"Rocha","sequence":"additional","affiliation":[{"name":"Nutrition and Metabolism, NOVA Medical School|Faculdade de Ci\u00eancias M\u00e9dicas NMS|FCM, Universidade Nova de Lisboa, 1169-056 Lisboa, Portugal"},{"name":"Centro de Investiga\u00e7\u00e3o em Tecnologias e Servi\u00e7os de Sa\u00fade (CINTESIS), NOVA Medical School|Faculdade de Ci\u00eancias M\u00e9dicas NMS|FCM, Universidade Nova de Lisboa, 1169-056 Lisboa, Portugal"},{"name":"Reference Centre of Inherited Metabolic 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Steelhouse Lane, Birmingham B4 6NH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,7,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"107583","DOI":"10.1016\/j.ymgme.2023.107583","article-title":"Phenylketonuria and the brain","volume":"139","author":"Rovelli","year":"2023","journal-title":"Mol. 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