Phenylketonuria (PKU) is a genetic disorder that affects the body's ability to break down an amino acid called phenylalanine. It is caused by a mutation in the gene responsible for producing an enzyme called phenylalanine hydroxylase, which is needed to convert phenylalanine into another amino acid called tyrosine.
PKU is an inherited condition, meaning it is passed down from parents to their children through their genes. It is an autosomal recessive disorder, which means that both parents must carry a copy of the mutated gene for their child to develop PKU. If both parents are carriers, there is a 25% chance with each pregnancy that their child will have PKU.
However, it is important to note that PKU is not contagious. It cannot be transmitted from person to person through any form of contact, including physical contact, respiratory droplets, or sharing personal items. PKU is solely a result of genetic inheritance and is not caused by exposure to an infected individual or any infectious agent.
Individuals with PKU have to follow a strict diet that limits their intake of phenylalanine. This is because their bodies cannot properly process and eliminate the amino acid, leading to a buildup of phenylalanine in the blood. If left untreated, this can result in intellectual disability, developmental delays, and other neurological problems.
Early diagnosis through newborn screening and lifelong management of PKU with a low-phenylalanine diet can help individuals with PKU lead healthy lives. Regular monitoring of blood phenylalanine levels and working closely with healthcare professionals, such as dietitians and genetic counselors, are crucial for managing the condition.