2026-07-23T17:12:32Zhttps://repisalud.isciii.es/rest/oai/request
oai:repisalud.isciii.es:20.500.12105/187872024-09-21T18:53:29Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16927col_20.500.12105_16958
Repisalud author Dios-Fuentes, Elena author Gonzalo Marin, Montserrat author Remón-Ruiz, Pablo author Benitez Avila, Rosa author Bueno Delgado, Maria A author Blasco Alonso, Javier author Doulatram Gamgaram, Viyei Kishore author Olveira, Gabriel author Soto-Moreno, Alfonso author Venegas-Moreno, Eva 2024-02-27T15:16:08Z 2024-02-27T15:16:08Z 2022-03-21 10.3390/nu14061311 2072-6643 Nutrients http://hdl.handle.net/10668/21462 35334968 http://hdl.handle.net/20.500.12105/18787 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 (>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 (23−38) 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 (22.7−31.1) 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. eng phenylalanine phenylketonuria sapropterin Cardiometabolic and Nutritional Morbidities of a Large, Adult, PKU Cohort from Andalusia. research article