Phenylketonuria (PKU) is a rare genetic disorder that affects the body's ability to break down an amino acid called phenylalanine. This condition is caused by a deficiency of an enzyme called phenylalanine hydroxylase, which is responsible for converting phenylalanine into another amino acid called tyrosine. Without this enzyme, phenylalanine builds up in the blood and can cause various symptoms and complications.
PKU is typically diagnosed shortly after birth through newborn screening tests. However, in some cases, symptoms may appear before the screening or go unnoticed until later in infancy. The early signs and symptoms of PKU may include:
PKU is a lifelong condition, but with early diagnosis and proper management, individuals with PKU can lead healthy lives. The most crucial aspect of managing PKU is following a strict low-phenylalanine diet. This diet involves avoiding foods high in phenylalanine, such as meat, fish, eggs, dairy products, nuts, and certain grains. Instead, individuals with PKU consume specially formulated medical foods and low-protein alternatives.
When individuals with PKU do not adhere to the prescribed diet or fail to manage their condition effectively, they may experience late symptoms and complications, including:
It is important to note that the severity and presentation of symptoms can vary among individuals with PKU. Some individuals may have milder forms of the condition and experience fewer symptoms, while others may have more severe symptoms and complications.
Phenylketonuria (PKU) is a genetic disorder that affects the body's ability to process phenylalanine. Early diagnosis through newborn screening and strict dietary management are crucial for individuals with PKU. By following a low-phenylalanine diet and receiving appropriate medical care, individuals with PKU can minimize symptoms, prevent complications, and lead fulfilling lives.