Management of phenylketonuria in European PKU centres remains heterogeneous
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Management of phenylketonuria in European PKU centres remains heterogeneous. / Kirsten, Ahring; Amaya, Bélanger-Quintana; Alberto, Burlina; Maria, Giżewska; Francois, Maillot; Ania, Muntau; Anne, Roscher; Anita, MacDonald.
In: MOL GENET METAB, Vol. 141, No. 1, 01.2024, p. 108120.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Management of phenylketonuria in European PKU centres remains heterogeneous
AU - Kirsten, Ahring
AU - Amaya, Bélanger-Quintana
AU - Alberto, Burlina
AU - Maria, Giżewska
AU - Francois, Maillot
AU - Ania, Muntau
AU - Anne, Roscher
AU - Anita, MacDonald
N1 - Copyright © 2024 Elsevier Inc. All rights reserved.
PY - 2024/1
Y1 - 2024/1
N2 - Phenylketonuria (PKU) is a genetic disorder that follows an autosomal recessive inheritance pattern. Dietary treatment is the cornerstone of therapy and is based on natural protein restriction, Phe-free L-amino acid supplements (protein substitutes) and low protein foods. The aim of this project was to collect information about the clinical management of patients with PKU, focusing on understudied or unresolved issues such as blood phenylalanine (Phe) fluctuations and clinical symptoms, particularly gastro intestinal (GI) discomfort and sleep problems. The survey consisted of 10 open-ended and 12 multiple-choice questions that collected information about size of the PKU population in each center, the center's clinical practices and the outcomes observed by the center concerning adherence, clinical and biochemical abnormalities and clinical symptoms (GI and sleep). The questionnaire was sent to 72 experts from metabolic centers in 11 European countries. Thirty-three centers answered. The results of this survey provide information about the clinical practice in different age groups, concentrating on dietary tolerance, treatment adherence, and metabolic control. All the centers prescribed a Phe-restricted diet, with Phe-free/low Phe protein substitutes and low protein foods. Daily doses given of protein substitutes varied from 1 to 5, with adherence to the prescribed amounts decreasing with increasing age. Respondents identified that improvement in the flavor, taste, volume and smell of protein substitutes may improve adherence. Finally, the survey showed that clinical symptoms, such as GI discomfort and sleep problems occur in patients with PKU but are not systematically evaluated. Twenty-four-hour Phe fluctuations were not routinely assessed. The results highlight a strong heterogeneity of approach to management despite international PKU guidelines. More clinical attention should be given to gastrointestinal and sleep problems in PKU.
AB - Phenylketonuria (PKU) is a genetic disorder that follows an autosomal recessive inheritance pattern. Dietary treatment is the cornerstone of therapy and is based on natural protein restriction, Phe-free L-amino acid supplements (protein substitutes) and low protein foods. The aim of this project was to collect information about the clinical management of patients with PKU, focusing on understudied or unresolved issues such as blood phenylalanine (Phe) fluctuations and clinical symptoms, particularly gastro intestinal (GI) discomfort and sleep problems. The survey consisted of 10 open-ended and 12 multiple-choice questions that collected information about size of the PKU population in each center, the center's clinical practices and the outcomes observed by the center concerning adherence, clinical and biochemical abnormalities and clinical symptoms (GI and sleep). The questionnaire was sent to 72 experts from metabolic centers in 11 European countries. Thirty-three centers answered. The results of this survey provide information about the clinical practice in different age groups, concentrating on dietary tolerance, treatment adherence, and metabolic control. All the centers prescribed a Phe-restricted diet, with Phe-free/low Phe protein substitutes and low protein foods. Daily doses given of protein substitutes varied from 1 to 5, with adherence to the prescribed amounts decreasing with increasing age. Respondents identified that improvement in the flavor, taste, volume and smell of protein substitutes may improve adherence. Finally, the survey showed that clinical symptoms, such as GI discomfort and sleep problems occur in patients with PKU but are not systematically evaluated. Twenty-four-hour Phe fluctuations were not routinely assessed. The results highlight a strong heterogeneity of approach to management despite international PKU guidelines. More clinical attention should be given to gastrointestinal and sleep problems in PKU.
KW - Humans
KW - Phenylketonurias/diagnosis
KW - Surveys and Questionnaires
KW - Diet, Protein-Restricted
KW - Europe
KW - Phenylalanine
KW - Sleep Wake Disorders
U2 - 10.1016/j.ymgme.2023.108120
DO - 10.1016/j.ymgme.2023.108120
M3 - SCORING: Journal article
C2 - 38159545
VL - 141
SP - 108120
JO - MOL GENET METAB
JF - MOL GENET METAB
SN - 1096-7192
IS - 1
ER -