Phenylketonuria

PKU; Neonatal phenylketonuria

Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.

Phenylketonuria test

Blood is routinely drawn from newborn infants for testing. Blood is obtained by a heel stick and collected on a special blotter paper. Routine testing includes phenylketonuria and blood type. Many hospitals include other tests such as thyroid function, hemoglobin S (sickle cell disease), or may test for other blood disorders (hemoglobinopathies). Testing can be tailored to the local population, taking into account race and ethnic background in determining what routine testing should be done.

Phenylketonuria test

Blood is routinely drawn from newborn infants for testing. Blood is obtained by a heel stick and collected on a special blotter paper. Routine testing usually includes phenylketonuria, thyroid function, hemoglobin S (sickle cell disease), and may test for other disorders. Newborn screening programs vary from state to state. Testing can be tailored to the local population, determining what routine testing should be done.

Causes

Symptoms

Exams and Tests

Treatment

Outlook (Prognosis)

Possible Complications

When to Contact a Medical Professional

Prevention