PATHOPHYSIOLOGICAL ASPECTS OF PHENYLKETONURIA

Abstract

This article highlights the importance of inborn errors of metabolism, with a particular focus on phenylketonuria. This disorder is characterized by the body's inability to properly break down the amino acid phenylalanine. This occurs due to a deficiency or absence of phenylalanine hydroxylase, which converts phenylalanine to tyrosine. Phenylketonuria affects the expression of the phenylalanine hydroxylase gene, leading to impaired metabolism of phenylalanine and its conversion to tyrosine. Consequently, phenylalanine accumulates in the blood plasma, adversely affecting various body systems, including the nervous system (resulting in symptoms such as myoclonus, severe mental status changes, and seizures), skin (causing hypopigmentation), and urine composition.

Further research is needed to develop pathophysiologically based treatments.