Phenylketonuria (PKU): Causes, Symptoms, And Treatment
Phenylketonuria (PKU) is a rare inherited metabolic disorder that, if left untreated, can lead to serious health problems. Let's explore the causes, symptoms, and treatment options for PKU.
What is Phenylketonuria (PKU)?
Phenylketonuria (PKU) is an inherited disorder that increases the levels of phenylalanine in the blood. Phenylalanine is an amino acid, which are the building blocks of proteins. People with PKU lack the enzyme needed to break down phenylalanine, leading to a buildup in the body. This buildup can cause intellectual disability, seizures, and other serious health problems.
Causes of PKU
PKU is caused by a defect in the PAH gene. This gene helps create the enzyme phenylalanine hydroxylase, which is needed to break down phenylalanine. If this enzyme is deficient or missing, the body cannot process phenylalanine properly, leading to its accumulation.
Symptoms of PKU
PKU symptoms can vary from mild to severe, but may include:
- Intellectual disability
- Seizures
- Developmental delays
- Behavioral problems
- Psychiatric disorders
- Musty odor in breath, skin, or urine
- Fair skin and blue eyes
Diagnosis of PKU
PKU is typically diagnosed through a newborn screening test. This test involves taking a small blood sample from the baby's heel to check for high levels of phenylalanine. Early diagnosis is crucial to prevent serious complications.
Treatment Options for PKU
While there is no cure for PKU, treatment focuses on managing phenylalanine levels through diet and medication:
- Dietary Management:
- A strict diet low in phenylalanine is essential. This involves limiting high-protein foods such as meat, dairy, and nuts.
- Special formulas and supplements are used to ensure adequate nutrient intake.
- Medication:
- Sapropterin dihydrochloride (Kuvan) can help some people with PKU by increasing their tolerance to phenylalanine. It works by helping the enzyme phenylalanine hydroxylase function more effectively.
- Pegvaliase-pqpz (Palynziq) is an enzyme substitution therapy that helps break down phenylalanine. It is used for adults with PKU whose phenylalanine levels are not well-controlled with diet alone.
Living with PKU
Managing PKU requires ongoing monitoring and adjustments to the treatment plan. Regular blood tests are necessary to monitor phenylalanine levels. With proper management, individuals with PKU can lead healthy lives. Support groups and resources are available to help families navigate the challenges of living with PKU. More information and support can be found at the National PKU Alliance.
