TY - JOUR
T1 - Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe
T2 - The Impact of Age and Phenylketonuria Severity
AU - Pinto, Alex
AU - Ahring, Kirsten
AU - Almeida, Manuela Ferreira
AU - Ashmore, Catherine
AU - Bélanger-Quintana, Amaya
AU - Burlina, Alberto
AU - Coşkun, Turgay
AU - Daly, Anne
AU - van Dam, Esther
AU - Dursun, Ali
AU - Evans, Sharon
AU - Feillet, François
AU - Giżewska, Maria
AU - Gökmen-Özel, Hulya
AU - Hickson, Mary
AU - Hoekstra, Yteke
AU - Ilgaz, Fatma
AU - Jackson, Richard
AU - Leśniak, Alicja
AU - Loro, Christian
AU - Malicka, Katarzyna
AU - Patalan, Michał
AU - Rocha, Júlio César
AU - Sivri, Serap
AU - Rodenburg, Iris
AU - van Spronsen, Francjan
AU - Strączek, Kamilla
AU - Tokatli, Ayşegül
AU - MacDonald, Anita
N1 - Publisher Copyright:
© 2024 by the authors.
PY - 2024/8/31
Y1 - 2024/8/31
N2 - In phenylketonuria (PKU), natural protein intake is thought to increase with age, particularly during childhood and adolescence. Longitudinal dietary intake data are scarce and lifelong phenylalanine tolerance remains unknown. Nine centres managing PKU in Europe and Turkey participated in a retrospective study. Data were collected from dietetic records between 2012 and 2018 on phenylalanine (Phe), natural protein, and protein substitute intake. A total of 1323 patients (age range: 1–57 y; 51% male) participated. Dietary intake data were available on 1163 (88%) patients. Patient numbers ranged from 59 to 320 in each centre. A total of 625 (47%) had classical PKU (cPKU), n = 357 (27%) had mild PKU (mPKU), n = 325 (25%) had hyperphenylalaninemia (HPA), and n = 16 (1%) were unknown. The mean percentage of blood Phe levels within target ranged from 65 ± 54% to 88 ± 49%. When intake was expressed as g/day, the mean Phe/natural protein and protein equivalent from protein substitute gradually increased during childhood, reaching a peak in adolescence, and then remained consistent during adulthood. When intake was expressed per kg body weight (g/kg/day), there was a decline in Phe/natural protein, protein equivalent from protein substitute, and total protein with increasing age. Overall, the mean daily intake (kg/day) was as follows: Phe, 904 mg ± 761 (22 ± 23 mg/kg/day), natural protein 19 g ± 16 (0.5 g/kg/day ± 0.5), protein equivalent from protein substitute 39 g ± 22 (1.1 g/kg/day ± 0.6), and total protein 59 g ± 21 (1.7 g/kg/day ± 0.6). Natural protein tolerance was similar between males and females. Patients with mPKU tolerated around 50% less Phe/natural protein than HPA, but 50% more than cPKU. Higher intakes of natural protein were observed in Southern Europe, with a higher prevalence of HPA and mPKU compared with patients from Northern European centres. Natural protein intake doubled with sapropterin usage. In sapropterin-responsive patients, 31% no longer used protein substitutes. Close monitoring and optimisation of protein intake prescriptions are needed, along with future guidelines specifically for different age groups and severities.
AB - In phenylketonuria (PKU), natural protein intake is thought to increase with age, particularly during childhood and adolescence. Longitudinal dietary intake data are scarce and lifelong phenylalanine tolerance remains unknown. Nine centres managing PKU in Europe and Turkey participated in a retrospective study. Data were collected from dietetic records between 2012 and 2018 on phenylalanine (Phe), natural protein, and protein substitute intake. A total of 1323 patients (age range: 1–57 y; 51% male) participated. Dietary intake data were available on 1163 (88%) patients. Patient numbers ranged from 59 to 320 in each centre. A total of 625 (47%) had classical PKU (cPKU), n = 357 (27%) had mild PKU (mPKU), n = 325 (25%) had hyperphenylalaninemia (HPA), and n = 16 (1%) were unknown. The mean percentage of blood Phe levels within target ranged from 65 ± 54% to 88 ± 49%. When intake was expressed as g/day, the mean Phe/natural protein and protein equivalent from protein substitute gradually increased during childhood, reaching a peak in adolescence, and then remained consistent during adulthood. When intake was expressed per kg body weight (g/kg/day), there was a decline in Phe/natural protein, protein equivalent from protein substitute, and total protein with increasing age. Overall, the mean daily intake (kg/day) was as follows: Phe, 904 mg ± 761 (22 ± 23 mg/kg/day), natural protein 19 g ± 16 (0.5 g/kg/day ± 0.5), protein equivalent from protein substitute 39 g ± 22 (1.1 g/kg/day ± 0.6), and total protein 59 g ± 21 (1.7 g/kg/day ± 0.6). Natural protein tolerance was similar between males and females. Patients with mPKU tolerated around 50% less Phe/natural protein than HPA, but 50% more than cPKU. Higher intakes of natural protein were observed in Southern Europe, with a higher prevalence of HPA and mPKU compared with patients from Northern European centres. Natural protein intake doubled with sapropterin usage. In sapropterin-responsive patients, 31% no longer used protein substitutes. Close monitoring and optimisation of protein intake prescriptions are needed, along with future guidelines specifically for different age groups and severities.
KW - natural protein intake
KW - phenylalanine intake
KW - phenylketonuria
KW - protein equivalent from protein substitute intake
KW - total protein intake
UR - http://www.scopus.com/inward/record.url?scp=85204105610&partnerID=8YFLogxK
UR - https://pearl.plymouth.ac.uk/context/hp-research/article/1682/viewcontent/nutrients_16_02909.pdf
U2 - 10.3390/nu16172909
DO - 10.3390/nu16172909
M3 - Article
AN - SCOPUS:85204105610
SN - 2072-6643
VL - 16
JO - Nutrients
JF - Nutrients
IS - 17
M1 - 2909
ER -
