Pediatr. praxi. 2020;21(5):342-345 | DOI: 10.36290/ped.2020.069

Patient with phenylketonuria: current treatment options and future prospects

doc. MUDr. Dagmar Procházková, Ph.D., MUDr. Petra Konečná, Ph.D., MUDr. Kateřina Slabá

Pediatrická klinika, Lékařská fakulta Masarykovy Univerzity v Brně a Fakultní nemocnice Brno

Phenylketonuria (PKU) is an autosomal recessive inherited disorder of the metabolism of the amino acid phenylalanine, which is caused by a deficiency of the enzyme phenylalanine hydroxylase in the liver. Untreated PKU primarily leads to cognitive impairment. The most commonly used treatment is a low-protein diet with a low content of phenylalanine in the diet (phenylalanine free amino acid mixtures, glycomacropeptide-GMP, neutral long-chain amino acids-LNNAs). Decreased organoleptic properties of a low-protein diet lead to poor adherence to a diet with possible cognitive and executive dysfunction. For this reasons, new treatment options are sought, ei. treatment with cofactor BH4, enzyme replacement therapy, the use of probiotics and potentially gene therapy. The Key European Guidelines for the diagnosis and manamegent of patients with phenylketonuria (PKU) were developed to optimise PKU care.

Keywords: inborn errors of metabolism, phenylketonuria, treatment.

Published: October 16, 2020  Show citation