Phenylketonuria (PKU) is an inherited metabolic disorder that causes excess levels of phenylalanine in the blood. Phenylalanine is an amino acid normally found in most foods that contains protein. People with PKU cannot break down phenylalanine properly due to a missing or faulty enzyme called phenylalanine hydroxylase. As a result, phenylalanine levels build up in the blood and can lead to intellectual disabilities and other complications if left untreated. PKU is caused by mutations in the PAH gene, which provides instructions for making the phenylalanine hydroxylase enzyme. It is usually diagnosed through newborn screening, since early treatment can help prevent intellectual disabilities. 

Dietary Treatment for Phenylketonuria

The primary Phenylketonuria Treatment is a very low phenylalanine diet. This diet strictly limits the intake of foods high in phenylalanine, such as meat, eggs, fish, dairy products, nuts, and soy. Individuals with PKU need to read food labels carefully to ensure they stay within their recommended daily phenylalanine intake. A dietitian can help develop a specialized eating plan tailored for each patient's individual needs and phenylalanine tolerances. The diet involves consuming phenylalanine-free protein substitutes instead of regular protein sources. Examples of substitutes include formulas made from sources such as corn or other naturally phenylalanine-free proteins. Staying on the low phenylalanine diet requires diligent monitoring for life to ensure blood phenylalanine levels stay within the target range.

Get More Insights On-Phenylketonuria Treatment