Review article

https://doi.org/10.51650/ezrvs.16.3-4.7

THE IMPORTANCE OF DIET THERAPY IN THE TREATMENT OF PHENYLKETONURIA: A CASE REPORT

Nikolina Gaćina orcid.org/0000-0001-5636-5832 ; Veleučilište u Šibeniku, Šibenik, Hrvatska
Jerko Vučak orcid.org/0000-0002-8815-2302 ; Specijalistička pedijatrijska ordinacija Jerko Vučak, Šibenik, Hrvatska

Abstract

Phenylketonuria is the most common inborn error of amino acid metabolism. It is caused by the impossibility of converting the essential amino acid phenylalanine into tyrosine, most often due to insufficient production or a complete lack of the enzyme phenylalanine hydroxylase due to a mutation in its gene. In most developed countries, including Croatia, it is detected through mandatory newborn screening. Treatment is carried out with strictly regulated lifelong low-protein diet therapy. The case of a one-year-old girl with phenylketonuria, which is well-regulated, is presented.

Keywords

phenylketonuria; hyperphenylalaninemia; diet therapy; low-protein diet; case report.

Hrčak ID:

289309

URI

https://hrcak.srce.hr/289309

Publication date:

28.12.2022.

Article data in other languages: croatian

Visits: 2.067 *