Phenylketonuria (PKU) is a genetic disorder that prevents the body from properly breaking down phenylalanine (Phe), an amino acid found in protein-rich foods. Without treatment, phenylalanine builds up to toxic levels, causing irreversible brain damage and intellectual disability.
📌 Fact: A strict low-phenylalanine diet, started early in life, can prevent brain damage and allow normal cognitive development in babies with PKU.
🥦 How Does a Special Diet Help?
Since PKU patients lack the enzyme needed to break down phenylalanine, they must strictly limit their intake of high-protein foods to prevent toxic buildup.
🔹 Avoid high-protein foods – Meat, fish, eggs, dairy, nuts, and soy contain too much phenylalanine.
🔹 Use special medical formulas – These provide essential nutrients without excess phenylalanine.
🔹 Monitor blood Phe levels regularly – Ensures proper dietary balance.
📌 Fact: The PKU diet must be maintained for life, as stopping it in adulthood can still lead to cognitive and neurological problems.
🚨 What Happens If the PKU Diet Is Not Followed?
If a baby with PKU does not follow the strict diet, phenylalanine builds up in the brain, leading to:
❌ Severe intellectual disability (if untreated from infancy).
❌ Behavioral problems, mood disorders, and ADHD-like symptoms.
❌ Seizures and movement disorders.
❌ Skin conditions like eczema and a “musty” body odor (caused by excess Phe).
📌 Fact: Strict dietary control in childhood prevents nearly all of these complications.
💡 New Treatments for PKU
Although diet is the main treatment, new medical advancements help some PKU patients:
✔ Kuvan (Sapropterin dihydrochloride) – A medication that helps some patients break down phenylalanine.
✔ Pegvaliase (Palynziq) – An enzyme therapy for adults with PKU.
✔ Gene therapy (in development) – Potential for a permanent cure in the future.
📌 Fact: With proper diet and treatment, individuals with PKU can live normal, healthy lives.
📌 Final Thoughts
A strict low-phenylalanine diet is essential for preventing brain damage in babies with PKU. When diagnosed early and managed properly, children with PKU can develop normally, avoiding the severe complications of untreated PKU.
