Phenylketonuria selected as an example of a rare metabolic disease

Abstract

Introduction. Phenylketonuria, a metabolic disease, diagnosed late and untreated leads to severe disability.

Aim. The aim of the study was to present the characteristics of phenylketonuria as a rare metabolic disease.

Material and methods. The method used in the work is the analysis of literature.

Overview. The essence of the disease is the lack or a significant deficit in the activity of the enzyme phenylalanine hydroxylase (PAH for short), which is produced by the liver. The deficit leads to disturbances in the transformation of phenylalanine (Phe) into tyrosine. The consequence of such a reaction is an excessive amount of the amino acid appearing in the child's serum, which ultimately leads to significant damage to the central nervous system.

Conclusions. Nowadays, people suffering from Phenylketonuria have a great chance for proper intellectual development, and the disease itself does not affect the level of education or professional career. The success of screening is undoubtedly tangible, because through a quick diagnosis it gives patients a chance for a normal life.