What is Phenylketonuria (PKU)?

phenylketonuria PKU
0
Posted

What is Phenylketonuria (PKU)?

0

Phenylalanine is an amino acid found in protein-rich foods such as meats and dairy products. People with phenylketonuria lack the enzyme needed to break down this amino acid, which leads to a toxic buildup of phenylalanine in their bodies. PKU has both a genetic and an environmental component. While the disease starts with a genetic problem the lack of a critical enzyme it’s actually the presence of phenylalanine in someone’s diet that causes symptoms. The main signs and symptoms include: • Severe mental retardation • Small head size (microcephaly) • Seizures • Behavior problems The disorder is most harmful if it goes undetected during a child’s early development (from birth to 6 months). High levels of phenylalanine disrupt brain development. Before newborn screening for PKU began, PKU was a common cause of mental retardation. Today, newborn screening is offered in all 50 states. By identifying babies with PKU right after they are born, treatment can begin before high levels of phenyl

Related Questions