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Phenylketonuria (PKU) is a rare, inherited metabolic disease that can have serious health consequences.
In this article we will discuss what PKU is, its causes, symptoms, diagnosis and available treatment methods. Learn about the possible complications of phenylketonuria and how you can effectively manage the condition.
What is phenylketonuria?
Phenylketonuria (PKU) is a rare genetic condition that affects the way the body processes the amino acid phenylalanine. People suffering from PKU are unable to properly metabolize phenylalanine, which leads to its excessive accumulation in the blood. This phenomenon can lead to serious health problems, including brain damage.
Phenylketonuria – causes
The cause of phenylketonuria is a mutation in the PAH gene, which is responsible for the production of the enzyme phenylalanine hydrolase. In PKU, this enzyme is not produced or does not function properly. This prevents the body from breaking down phenylalanine, leading to a build-up.
Phenylketonuria – symptoms
Symptoms of phenylketonuria can vary and vary depending on the severity of the disease. The most common symptoms are:
- Delayed mental development
- Problems with behavior and emotions
- Mood disorders
- Learning difficulties
- Neurological disorders
If PKU is not diagnosed and treated early in life, it can lead to brain damage and permanent intellectual disabilities.
Phenylketonuria – diagnosis
Diagnosis of phenylketonuria involves testing the level of phenylalanine in the newborn’s blood. In Poland, it is a mandatory screening test performed almost immediately after the birth of the child. If the result is positive, it is necessary to confirm the diagnosis with more specific tests.
Phenylketonuria – treatment
Treatment of phenylketonuria is based on diet therapy. It involves eliminating phenylalanine from the patient’s diet. People suffering from PKU must follow a special low-phenylalanine diet throughout their lives. Introducing a diet from an early age helps avoid brain damage and maintain intellectual ability.
Your suggestions
If you suspect that you or your child may have phenylketonuria, consult your doctor immediately. Early diagnosis and appropriate treatment are key to preventing serious complications related to PKU.
Recommended articles
If you are interested in the topic of phenylketonuria, we recommend reading articles on the low-phenylalanine diet, modern diagnostic methods and stories of people suffering from PKU who share their experiences and advice.
Phenylketonuria is a disease that requires constant care and attention, but with appropriate treatment and support, you can effectively manage its effects and lead a fulfilling life.