This inherited disorder is tested for in the hospital prior to the baby being released home with it's parents in order to prevent a build up of amino acids in the body which can cause neurological problems, and in severe cases, death.
The disorder being referred to is called phenylketonuria (PKU). PKU is an inherited metabolic disorder characterized by the inability of the body to properly break down an amino acid called phenylalanine. This leads to a toxic buildup of phenylalanine in the body, which can cause neurological problems and potentially life-threatening complications. To prevent these issues, hospitals perform a routine test called the Guthrie test or the heel prick test shortly after birth to screen for PKU. If a positive result is detected, the baby's diet can be modified to restrict phenylalanine intake, preventing the buildup of amino acids and minimizing the risk of neurological damage and serious health consequences.
