What diseases are newborns screened for?
What diseases are screened for depends on the state where you live. In most states, testing is done for phenylketonuria (PKU), hypothyroidism, galactosemia, and sickle cell anemia (SC)/other hemoglobin disorders. • Phenylketonuria (PKU) PKU is a recessive disorder which occurs in about one in 10,000 to 25,000 live births and is caused by the absence of the enzyme phenylalanine hydroxylase. This enzyme normally converts phenylalanine (present in dietary protein) to tyrosine. Infants with PKU may be asymptomatic for many weeks. However, when PKU infants begin to eat foods containing phenylalanine, they can display delays in development, small head size, mental retardation, seizures, hyperactivity, and a decreased growth rate. Dietary restriction of phenylalanine is needed to treat PKU and should begin as soon as possible after birth and continued throughout the life of an individual with PKU. If left untreated, most persons with PKU have an IQ less than 50. • Congenital hypothyroidism Co
