PKU stands for Phenylketonuria, a rare inherited disorder that affects the way the body processes an amino acid called phenylalanine. It is caused by a deficiency or absence of an enzyme called phenylalanine hydroxylase (PAH), which is responsible for converting phenylalanine into another amino acid called tyrosine. This results in a buildup of phenylalanine in the blood and body tissues.
Individuals with PKU are born with the condition and must follow a strict low-protein diet to prevent the accumulation of phenylalanine. If left untreated, high levels of phenylalanine can cause brain damage and intellectual disabilities. Therefore, newborn screening tests are routinely performed to detect PKU early on, allowing for early intervention and treatment.
Symptoms of PKU may include intellectual disability, delayed development, behavioral problems, seizures, a musty odor in the breath, skin rashes, and lighter skin compared to family members.
Treatment for PKU primarily involves adhering to a low-phenylalanine diet, which restricts the intake of high-protein foods such as meat, fish, dairy, and certain grains. Special medical formulas that are low in phenylalanine are also used to supplement the diet. Regular monitoring of phenylalanine levels in the blood is necessary to ensure that the diet is effective.
PKU is a lifelong condition, and individuals with PKU need to continue managing their diet and monitoring their phenylalanine levels throughout their lives. With proper management and early intervention, individuals with PKU can lead healthy and fulfilling lives.
