Living with phenylketonuria in adulthood: The PKU ATTITUDE study
| Autor: | Giulia Bensi, Vincenzo Leuzzi, Giacomo Biasucci, Giulia Polo, Chiara Cazzorla, Marcella Vendemiale, Francesco Papadia, Antonella Musumeci, Albina Tummolo, Filippo Manti, Vera Stoppioni, Alberto Burlina |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Phenylalanine Disease Phenylketonuria (PKU) 030105 genetics & heredity 03 medical and health sciences 0302 clinical medicine Endocrinology Adulthood Amino acid Compliance Diet Molecular Biology Genetics medicine lcsh:QH301-705.5 Response rate (survey) lcsh:R5-920 business.industry nutritional and metabolic diseases medicine.disease lcsh:Biology (General) Dietary treatment lcsh:Medicine (General) business 030217 neurology & neurosurgery Research Paper |
| Zdroj: | Molecular Genetics and Metabolism Reports Molecular Genetics and Metabolism Reports, Vol 16, Iss, Pp 39-45 (2018) |
| ISSN: | 2214-4269 |
| DOI: | 10.1016/j.ymgmr.2018.06.007 |
| Popis: | Dietary treatment is the cornerstone of therapy for phenylketonuria (PKU), but adherence to low- phenylalanine diet progressively decreases after adolescence. We designed a survey to characterize the dietary habits of Italian adult PKU patients and to identify psychological factors influencing disease perception and adherence to diet. Participants to the survey (n = 111; response rate 94%) were asked to complete a structured questionnaire. Patients appeared to have an altered perception and awareness of the disease. About 40% of them did not consider PKU a disease and, despite declaring regular monitoring of phenylalanine levels (85%), nearly half of them reported a high plasma value over the last 6 months (>600 μmol/L, 48%) or were unable to specify it (31%). Adherence to PKU diet was unsatisfactory, with increased consumption of natural protein sources and reduced daily use of amino-acid supplements ( |
| Databáze: | OpenAIRE |
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