PKU screening is a routine newborn screening to check for phenylketonuria, a rare metabolic disorder. It is important to identify PKU early to prevent neurological problems. The screening is done with a heel stick or urine test, and if positive, the child is referred to a metabolic specialist. PKU is genetic and symptoms can show […]
PKU is a rare genetic disorder that affects 1 in 15,000 people. It is caused by a lack of the enzyme phenylalanine hydroxylase, which converts phenylalanine into tyrosine. Newborns are tested for PKU as a special diet low in phenylalanine is required to prevent irreversible mental retardation. PKU foods are available, but can be expensive. […]
