RT Journal Article
T1 Cardiometabolic and Nutritional Morbidities of a Large, Adult, PKU Cohort from Andalusia.
A1 Dios-Fuentes, Elena
A1 Gonzalo-Marin, Montserrat
A1 Remon-Ruiz, Pablo
A1 Benitez-Avila, Rosa
A1 Bueno-Delgado, Maria A
A1 Blasco-Alonso, Javier
A1 Doulatram-Gamgaram, Viyei Kishore
A1 Olveira, Gabriel
A1 Soto-Moreno, Alfonso
A1 Venegas-Moreno, Eva
K1 Phenylalanine
K1 Phenylketonuria
K1 Sapropterin
AB 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.
PB MDPI
YR 2022
FD 2022-03-21
LK http://hdl.handle.net/10668/21462
UL http://hdl.handle.net/10668/21462
LA en
NO Dios-Fuentes E, Gonzalo Marin M, Remón-Ruiz P, Benitez Avila R, Bueno Delgado MA, Blasco Alonso J, et al. Cardiometabolic and Nutritional Morbidities of a Large, Adult, PKU Cohort from Andalusia. Nutrients. 2022 Mar 21;14(6):1311
DS RISalud
RD Apr 6, 2025