Phenylketonuria (PKU)

What Is PKU?

Phenylketonuria (PKU) is a rare genetic disorder that affects the body’s ability to process phenylalanine; an essential amino acid found in many protein-rich foods such as meat, eggs, dairy, nuts, and beans.

In individuals with PKU, the enzyme needed to break down phenylalanine is either missing or not functioning properly. As a result, phenylalanine accumulates in the blood.

How PKU Affects the Body?
If left untreated, high levels of phenylalanine can lead to serious health complications, including:
• Intellectual disability
• Seizures
• Behavioral and emotional difficulties
• Developmental delays

Because these effects can be severe and irreversible, early management is critical.

Signs and Symptoms
Newborns with PKU usually appear healthy at birth. However, without treatment, symptoms may develop within the first few months of life. These may include:
• A musty odor in breath, skin, or urine
• Skin conditions such as eczema
• Lighter skin, hair, and eye color
• Smaller head size (microcephaly)
• Hyperactivity
• Developmental delays
• Behavioral, emotional, or social challenges
• Mental health concerns

Severity of PKU
PKU varies in severity depending on how much enzyme activity is present:
• Classic PKU: The most severe form, with little to no enzyme activity
• Milder forms: Partial enzyme function, leading to less severe symptoms

Early Detection and Diagnosis
PKU is routinely identified through newborn screening shortly after birth using a simple blood test.
Early diagnosis allows treatment to begin immediately, preventing long-term complications and supporting normal development.

Treatment and Management
The primary treatment for PKU is a lifelong, carefully managed diet that limits phenylalanine intake. This includes:
• Avoiding high-protein foods
• Using specially formulated medical foods when needed
• Careful meal planning

Regular blood tests are essential to monitor phenylalanine levels and ensure they remain within a safe range.
Management typically involves a team of healthcare professionals, including a physician, dietitian, and genetic counselor.

PKU and Pregnancy
Women with PKU must follow a strict diet before and during pregnancy. Poorly controlled phenylalanine levels can lead to maternal PKU syndrome, which may cause serious complications for the developing baby.
Proper planning and medical supervision are essential for a healthy pregnancy.

Living with PKU
Although PKU requires lifelong attention, individuals with proper treatment and support can lead healthy, fulfilling lives. Advances in care and support systems continue to improve outcomes and quality of life.

Support Children with PKU

Every donation, no matter the size, can make a meaningful impact on the lives of children with PKU. Your support helps to:
• Provide essential medical testing for children: Ensuring early diagnosis, regular monitoring, and proper management of phenylalanine levels
• Improve children’s quality of life: Supporting their healthy growth, development, and daily well-being
• Supply specialized nutrition for children: Providing access to necessary low-phenylalanine foods and medical dietary products
• Support families of affected children: Offering education, guidance, and practical assistance for daily care and long-term management

Together, we can help children with PKU live healthier, safer, and more fulfilling lives.