Phenylketonuria (PKU)

Phenylketonuria (PKU) is a genetic disorder that affects the way the body processes an amino acid called phenylalanine. People with PKU are unable to properly metabolize phenylalanine, which can lead to a buildup of this amino acid in the body. If left untreated, this buildup can cause damage to the brain and nervous system, leading to intellectual disability and other neurological problems.

PKU is caused by a mutation in the gene that produces an enzyme called phenylalanine hydroxylase, which is responsible for breaking down phenylalanine in the body. Without this enzyme, phenylalanine can accumulate and cause damage.

PKU is typically diagnosed through newborn screening, which involves a simple blood test done shortly after birth. Early detection and treatment are important in preventing the serious complications associated with PKU. Treatment involves a strict diet that is low in phenylalanine. Infants with PKU are typically fed special formula that is low in phenylalanine, and as they grow older, they must follow a restricted diet that limits their intake of protein, which is a major source of phenylalanine. In some cases, supplements may be given to ensure that the individual gets enough of other essential amino acids.

With proper treatment and management, individuals with PKU can lead healthy and productive lives. However, it is important for individuals with PKU to continue following the low-phenylalanine diet throughout their lives, as even small amounts of phenylalanine can cause serious complications.

Leave a Reply

Your email address will not be published. Required fields are marked *