Phenylketonuria

📋Overview

This condition typically results from a deficiency in the enzyme phenylalanine hydroxylase, which is necessary to break down phenylalanine found in protein-rich foods and some artificial sweeteners. When this enzyme is absent or significantly reduced, the resulting buildup of phenylalanine can cause serious health issues, including neurological damage and intellectual impairment.

As an autosomal recessive genetic disorder, the condition is inherited when an individual receives two altered genes, one from each parent. Early identification often occurs through standard newborn screening protocols, which allow clinicians to monitor phenylalanine levels from the first days of life.