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Croatian journal of food technology, biotechnology and nutrition, Vol. 20 No. 3 - 4, 2025.

Professional paper

https://doi.org/10.31895/hcptbn.20.3-4.3

Dietary therapy principles in phenylketonuria and development of an educational tool for controlling phenylalanine intake on Croatian Language

Maja Pezelj ; Sveučilište u Zagrebu, Prehrambeno-biotehnološki fakultet, Pierottijeva 6, Zagreb, Hrvatska
Valentina Rahelić orcid id orcid.org/0000-0002-2579-560X ; Klinički bolnički centar Zagreb, Kišpatićeva ulica 12, 10 000, Zagreb, Hrvatska
Nikola Mesarić orcid id orcid.org/0000-0003-1731-1916 ; - Klinički bolnički centar Zagreb, Kišpatićeva ulica 12, 10 000, Zagreb, Hrvatska
Ivo Barić ; Klinički bolnički centar Zagreb, Kišpatićeva ulica 12, 10 000, Zagreb, Hrvatska, Sveučilište u Zagrebu Medicinski fakultet, Šalata 3, 10 000 Zagreb, Hrvatska
Danijela Petković Ramadža ; Klinički bolnički centar Zagreb, Kišpatićeva ulica 12, 10 000, Zagreb; Sveučilište u Zagrebu Medicinski fakultet, Šalata 3, 10 000 Zagreb, Hrvatska
Tamara Žigman ; Klinički bolnički centar Zagreb, Kišpatićeva ulica 12, 10 000, Zagreb, Hrvatska
Eva Pavić orcid id orcid.org/0000-0002-3506-1183 ; Klinički bolnički centar Zagreb, Kišpatićeva ulica 12, 10 000, Zagreb, Hrvatska
Ines Panjkota Krbavčić ; Sveučilište u Zagrebu, Prehrambeno-biotehnološki fakultet, Pierottijeva 6, Zagreb, Hrvatska
Ivana Rumora Samarin orcid id orcid.org/0000-0002-8213-0436 ; Sveučilište u Zagrebu, Prehrambeno-biotehnološki fakultet, Pierottijeva 6, Zagreb, Hrvatska, Hrvatska *

* Corresponding author.

Full text: croatian pdf 555 Kb

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Abstract

Phenylketonuria is an autosomal recessive inherited metabolic disease caused by biallelic pathogenic variants of the PAH gene encoding the enzyme phenylalanine hydroxylase (PAH). Due to reduced activity of the PAH enzyme, the metabolism of the amino acid phenylalanine is disrupted and it accumulates in tissues and body fluids. Treatment requires a lifelong strict low-protein diet, with mandatory supplementation with special medical preparations to ensure sufficient intake of other essential amino acids and other essential nutrients. Timely diagnosis through newborn screening and early initiation of therapy are key to prevent the development of intellectual disabilities and other severe neurological consequences. However, even with lifelong monitoring and good metabolic control, patients may have difficulties with attention and cognitive functions. Treatment of patients in the Republic of Croatia is carried out in accordance with the current European guidelines. The aim of this paper is to present the concept of an educational tool developed for people with phenylketonuria and their families in Croatia. The tool was designed to enable simpler and more precise monitoring of phenylalanine intake and increase user education, thus improving metabolic control and the quality of life of patients.

Keywords

dietotherapy principles; phenylketonuria; phenylalanine

Hrčak ID:

344471

URI

https://hrcak.srce.hr/344471

Publication date:

31.12.2025.

Article data in other languages: croatian

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