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

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