What is the treatment for phenylketonuria?

The treatment for phenylketonuria (PKU) involves a strict lifelong diet low in phenylalanine (Phe). This diet is important to prevent intellectual disability, behavioural problems, and other serious health issues that can occur if Phe levels in the blood are too high.

The PKU diet typically consists of:

- Medical formula (metabolic formula): This is a specially designed food that is low in Phe and provides the essential nutrients a person with PKU needs. It is typically consumed as a powder that is mixed with water or breast milk.

- Low-Phe foods: These include fruits, vegetables, and some grains. Some low-Phe starches, such as cornstarch and potato starch, can also be included.

- Phe-free foods: These include water, tea, coffee, and most fats.

Foods high in Phe, such as meat, fish, poultry, eggs, dairy products, nuts, seeds, beans, and legumes, must be avoided or limited in the diet.

The specific dietary restrictions and guidelines may vary depending on the individual's Phe tolerance, age, and overall health. Regular monitoring and adjustments to the diet by a healthcare professional experienced in PKU management are essential to ensure optimal outcomes.