{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T06:31:01Z","timestamp":1780554661532,"version":"3.54.1"},"reference-count":13,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2022,3,21]],"date-time":"2022-03-21T00:00:00Z","timestamp":1647820800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nutrients"],"abstract":"<jats:p>The establishment of national neonatal screening systems has resulted in improved quality of life and life expectancy in patients with phenylketonuria (PKU). This has led to the development of multidisciplinary treatment units for adult patients with PKU. We present a retrospective descriptive study of a cohort of 90 adult patients (&gt;16 years) with PKU under active follow-up in two reference centers in Andalusia. We analyzed disease severity, treatment type, demographic variables, cardiovascular risk factors, vitamin and hormone profiles, and bone metabolism. The median (interquartile range)age was 29 (23\u201338) years, 47 (52.2%) were women and 43 (47.8%) were men. Eighty (88.9%) had classical PKU, five (5.6%) moderate PKU, and five (5.6%) mild PKU. Diagnosis was by neonatal screening in 62 (68.9%) of the patients. The rest had late diagnosis. Treatment with sapropterin was given to 18 (20%) patients and diet and nutrition therapy to 72 (80%). There was adequate metabolic control according to Phe levels in 43 (47.78%) patients. Body mass index was 26.61 (22.7\u201331.1) kg\/m2. Twenty-six (29.2%) patients had obesity, 7 (7.9%) hypertension, 2 (2.2%) type 2 diabetes, 26 (28.89%) dyslipidemia, 14 (15.6%) elevated total cholesterol, 9 (15.8%) decreased high-density lipoprotein cholesterol and 16 (17.8%) hypertriglyceridemia. Seven (10.3%) patients had osteoporosis and 28 (41.17%) osteopenia. Twenty-six (30.6%) had vitamin D (25OH) deficiency and four (4.5%) vitamin B12 deficiency. Although we observed no differences with most vascular risk factors, we found a high prevalence of obesity in relation to the age of the cohort. A continued evaluation of comorbidities in these patients is therefore needed, despite adequate metabolic control.<\/jats:p>","DOI":"10.3390\/nu14061311","type":"journal-article","created":{"date-parts":[[2022,3,21]],"date-time":"2022-03-21T21:48:42Z","timestamp":1647899322000},"page":"1311","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Cardiometabolic and Nutritional Morbidities of a Large, Adult, PKU Cohort from Andalusia"],"prefix":"10.3390","volume":"14","author":[{"given":"Elena","family":"Dios-Fuentes","sequence":"first","affiliation":[{"name":"Unidad de Gesti\u00f3n Cl\u00ednica de Endocrinolog\u00eda y Nutrici\u00f3n, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocio\/CSIC\/Universidad de Sevilla, 41013 Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Montserrat","family":"Gonzalo Marin","sequence":"additional","affiliation":[{"name":"Instituto de Investigacion Biom\u00e9dica Malaga, Servicio Endocrinolog\u00eda y Nutrici\u00f3n, Hospital Regional Universitario Malaga, Universidad de Malaga, 29010 M\u00e1laga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4551-8159","authenticated-orcid":false,"given":"Pablo","family":"Rem\u00f3n-Ruiz","sequence":"additional","affiliation":[{"name":"Unidad de Gesti\u00f3n Cl\u00ednica de Endocrinolog\u00eda y Nutrici\u00f3n, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocio\/CSIC\/Universidad de Sevilla, 41013 Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Benitez Avila","sequence":"additional","affiliation":[{"name":"Unidad de Gesti\u00f3n Cl\u00ednica de Endocrinolog\u00eda y Nutrici\u00f3n, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocio\/CSIC\/Universidad de Sevilla, 41013 Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria A","family":"Bueno Delgado","sequence":"additional","affiliation":[{"name":"Unidad de Metabolopat\u00edas, Unidad de Gesti\u00f3n Cl\u00ednica de Pediatr\u00eda, Hospital Universitario Virgen del Rocio, 41013 Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4008-3747","authenticated-orcid":false,"given":"Javier","family":"Blasco Alonso","sequence":"additional","affiliation":[{"name":"Unidad Gastroenterolog\u00eda Pediatrica, Servicio Pediatria, Hospital Regional Universitario Malaga, Instituto de Investigacion Biom\u00e9dica Malaga, Universidad de Malaga, 29010 M\u00e1laga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viyei Kishore","family":"Doulatram Gamgaram","sequence":"additional","affiliation":[{"name":"Instituto de Investigacion Biom\u00e9dica Malaga, Servicio Endocrinolog\u00eda y Nutrici\u00f3n, Hospital Regional Universitario Malaga, Universidad de Malaga, 29010 M\u00e1laga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7646-2899","authenticated-orcid":false,"given":"Gabriel","family":"Olveira","sequence":"additional","affiliation":[{"name":"Instituto de Investigacion Biom\u00e9dica Malaga, Servicio Endocrinolog\u00eda y Nutrici\u00f3n, Hospital Regional Universitario Malaga, Universidad de Malaga, 29010 M\u00e1laga, Spain"},{"name":"Centro de Investigaci\u00f3n Biomedica en Red-Diabetes y Enfermedades Metab\u00f3licas Asociadas (CIBERDEM), 29010 M\u00e1laga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfonso","family":"Soto-Moreno","sequence":"additional","affiliation":[{"name":"Unidad de Gesti\u00f3n Cl\u00ednica de Endocrinolog\u00eda y Nutrici\u00f3n, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocio\/CSIC\/Universidad de Sevilla, 41013 Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Venegas-Moreno","sequence":"additional","affiliation":[{"name":"Unidad de Gesti\u00f3n Cl\u00ednica de Endocrinolog\u00eda y Nutrici\u00f3n, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocio\/CSIC\/Universidad de Sevilla, 41013 Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,3,21]]},"reference":[{"key":"ref_1","unstructured":"Couce Pico, M.L., Gonz\u00e1lez-Lamu\u00f1o Leguina, D., Venegas Moreno, E., Forga Visa, M., and Morales Conejo, M. 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Nutr."},{"key":"ref_13","first-page":"217","article-title":"Osteoporosis in young individuals","volume":"6","year":"2010","journal-title":"Reumatol. Clin."}],"container-title":["Nutrients"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2072-6643\/14\/6\/1311\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T22:40:15Z","timestamp":1760136015000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2072-6643\/14\/6\/1311"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,21]]},"references-count":13,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2022,3]]}},"alternative-id":["nu14061311"],"URL":"https:\/\/doi.org\/10.3390\/nu14061311","relation":{},"ISSN":["2072-6643"],"issn-type":[{"value":"2072-6643","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,21]]}}}