Understanding Phenylketonuria (PKU)

Phenylketonuria (PKU) is a genetic amino acid metabolism disorder where the body cannot properly metabolize phenylalanine, leading to the accumulation of phenylalanine and its metabolites in the body, which damages the nervous system and manifests as symptoms such as intellectual disability, epilepsy, and unusual urine odor. Treatment involves special diets and medications to lower the concentration of phenylalanine in the blood, preventing damage to the nervous system.
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What Are the Main Symptoms of Phenylketonuria in Children?

The main symptoms of phenylketonuria (PKU) in children include intellectual disability, epilepsy seizures, urine odor, yellow hair, and difficulties in motor coordination. Therefore, these children require special diets to lower the blood phenylalanine levels to prevent neurological damage. The diet should avoid protein-rich foods as much as possible.
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