Newborn screening in Pennsylvania is required by law for all infants born in the state of Pennsylvania, including those born at home. This newborn screening tests each infant for six metabolic diseases, which, without early detection can be detrimental to the health of the newborn, even though there are seldom any symptoms present when testing is performed. In Pennsylvania, this newborn screening is accomplished at no cost to the parents of the newborn. The tests performed on newborns are extremely important because they allow any newborn that tests positive to be properly identified and treatment to begin quickly, because there is no cure for these diseases, but treatment is available and the earlier treatment begins the more likely the infant will not suffer permanent damage.
The six metabolic diseases included during newborn screening in Pennsylvania are Congenital adrenal hyperplasia, Congenital hypothyroidism, Galactosemia, Maple syrup urine disease, Phenylketonuria and Hemoglobinopathies. Each of these diseases are serious and have detrimental consequences for any infant who has one of them and does not get properly diagnosed, often leading to death. Knowing that there are no cures, but only treatment for these diseases, increases the importance of the treatment for each disease.
Congenital adrenal hyperplasia is the result of an enzyme, which is missing or is not functioning correctly, that controls the production of male hormones. When this disease is present and left untreated in a newborn, the outcome can be early puberty, infertility, abiguous genitalia in girls, salt imbalances and hormone imbalances as well as heart failure and death. Treatment for this disease often includes salt and hormone replacement.
Congenital hypothyroidism is the result of the thyroid gland not producing thyroid hormones correctly. When this disease is present and left untreated in a newborn, the outcome can be jaundice, lethargy, constipation, brain damage, growth failure, poor appetite and hearing loss. Treatment for this hormone problem is drug therapy with thyroxine for the remainder of the infant’s life.
Galactosemia is the result of an enzyme, which is either missing or is malfunctioning, that controls the metabolizing of galactose, thus allowing galactose to collect in the body of the infant, leading to medical problems. These medical problems include damage to the central nervous system, the kidneys, the liver, brain damage and vision loss. Treatment for this disease is a strict diet void of any dairy products, including milk, as these foods contain galactose.
Maple syrup urine disease is the result of leucine, isoleucine and valine, which are amino acids, not being properly metabolized and collecting in the infant’s blood. When this collection occurs, the infant can suffer from loss of appetite, lethargy, brain damage, convulsions and death. Treatment for this disease is a strict diet void of any food that contains these amino acids along with intensive monitoring.
Phenylketonuria is another result of the infant’s body being inable to metabolize an amino acid, phenylalanine, and allowing it to collect in the infant’s body. This collection also causes the infant to suffer from brain damage and mental retardation. Treatment for this disease is also a strict diet.
Hemoglobinopathies are the result of inherited red blood cell diseases. These diseases can cause the infant to suffer from anemia, pain, infections and vital organ damage. Treatment for these diseases often include blood transfusions, pain medications and antibiotics.
Even though newborn screening in Pennsylvania covers only a handful of diseases that newborns could possibly have, they are very important and should be treated as soon as possible to prevent the infant from suffering any more. If caught soon enough, the infected infant may not have any of the symptoms listed, which is an excellent outcome to any test.