Izrada alata za procjenu unosa fenilalanina sustavom zamjena te procjena kvalitete života oboljelih od fenilketonurije

master's thesis

• Title (english): Development of a tool for assessing the intake of phenylalanine through the replacement system and assessing the quality of life of patients with phenylketonuria
• Author: Maja Pezelj
• Mentor: Ivana Rumora Samarin (mentor)
• Mentor: Valentina Rahelić (komentor)
• Committee member: Martina Bituh (predsjednik povjerenstva)
• Committee member: Valentina Rahelić (član povjerenstva)
• Committee member: Ivana Rumbak (član povjerenstva)
• Granter: University of Zagreb; Faculty of Food Technology and Biotechnology; (Department of Food Quality Control); (Laboratory for Food Chemistry and Biochemistry); Zagreb
• Defense date and country: 2023-09-27, Croatia
• Scientific / art field, discipline and subdiscipline: BIOTECHNICAL SCIENCES; Nutrition

Abstract

Fenilketonurija je genetski poremećaj metabolizma fenilalanina, koji može ozbiljno utjecati na funkciju mozga. Pravovremeno otkrivanje i adekvatna terapija, koja uključuje niskoproteinsku prehranu s dodacima prehrani bez fenilalanina, ključni su za normalan razvoj oboljele djece te zbrinjavanje bolesti kasnije u životu. No, takva dijeta može biti izazovna za oboljele i njihove obitelji zbog ograničenja u odabiru te pripremi hrane kao i socijalnim aktivnostima. Cilj ovog rada bio je izraditi edukativni alat za oboljele te je provedeno istraživanje s 38 ispitanika, uključujući djecu i odrasle, oboljele od fenilketonurije, kako bi se procijenila kvaliteta njihovog života. Većina ispitanika (više od 50 %) nema simptome povezane s fenilketonurijom. Također, većina njih ne prati strogu dijetu i rijetko računa udio fenilalanina u hrani, umjesto toga biraju namirnice iz preporučenih kategorija hrane. Najveći udio ispitanika (više od 70 %) koristi formule aminokiselina kao dio svoje prehrane. Većina ispitanika (57,9 %) smatra da bi im koristio izrađeni edukativni alat.

Abstract (english)

Phenylketonuria is a genetic disorder of phenylalanine metabolism, which can seriously affect brain function. Timely detection and adequate therapy, which includes a low-protein diet with food supplements without phenylalanine, are crucial for the normal development of affected children and treatment of the disease later in life. However, such a diet can be challenging for patients and their families due to limitations in food selection and preparation as well as social activities. The aim of this thesis was to create an educational tool for patients, and a study was conducted with 38 respondents, including children and adults, suffering from phenylketonuria, in order to assess their quality of life. Most respondents (more than 50 %) do not have symptoms related to phenylketonuria. Also, most of them do not follow a strict diet and rarely calculate the proportion of phenylalanine in food, instead choosing foods from the recommended food categories. The largest share of respondents (more than 70 %) uses amino acid formulas as part of their diet. Most respondents (57.9 %) believe that they would benefit from a prepared educational tool.

• Keywords: fenilketonurija; niskoproteinska prehrana; kvaliteta života; upitnik; edukativni alat
• Keywords (english): phenylketonuria; low-protein diet; quality of life; questionnaire; educational tool
• Language: croatian
• URN:NBN: urn:nbn:hr:159:515822
• Study programme: Title: Nutrition; Study programme type: university; Study level: graduate; Academic / professional title: magistar/magistra nutricionizma (magistar/magistra nutricionizma)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2024-05-24 08:39:52