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
Publication date:
28.12.2022.
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