Newborn Metabolic Screening

Newborn Metabolic Screening is used to detect blood, hormone, metabolism, infectious diseases, or abnormalities in newborn babies. These abnormalities, if left untreated, will lead to severe and chronic illness, mental retardation, or even death. Newborn metabolic screening is done on every newborn, usually two days after birth and before they leave the hospital. A small amount of blood is taken from the baby's heel, and sent to the lab for testing. The screening tests can diagnose the presence of at least 20 diseases that are caused by an abnormality of normal metabolism.

PKU (phenylketonuria) is an inherited enzyme deficiency. PKU is necessary for normal use of the protein phenylalanine. High blood levels of phenylalanine lead to progressive mental retardation when untreated. PKU is treated by a diet low in phenylalanine, which is very effective in preventing complications.

An under-active thyroid gland (Congenital Hypothyroidism) will result in delayed growth and mental retardation. This condition is easily treated with replacement thyroid hormone.

Galactosemia is a deficiency of the enzyme needed to use the glucose in cow's milk products (galactose). High blood levels of galactose in the blood can lead to blindness, mental retardation, and delayed physical growth, and may lead to death if untreated. Removing all dairy products from the diet is an effective treatment.

Sickle Cell Anemia is an inherited red blood cell abnormality that affects the normal shape of the RBCs. This disease can be very painful, can damage the lungs and kidneys, and may lead to death.

Biotinidase is an enzyme necessary for the use of the B-vitamin biotin. Biotin deficiency leads to a weak immune system, lack of muscle control, seizures, loss of hearing, mental retardation, and may lead to death if untreated. Biotinidase deficiency is easily treated with biotin supplementation.

Congenital Adrenal Hyperplasia (CAH) is a number of metabolic conditions that cause a decreased level of adrenal hormones, which affect normal sexual development and may lead to death if untreated. CAH is treated effectively with hormone replacement therapy.

Maple Syrup Urine Disease (MSUD) is the deficiency of an enzyme necessary for the use of certain amino acids present in foods with a high protein content. Blood levels of the amino acids leucine, isoleucine, and valine build up, and spill into the urine which causes the urine to smell very sweet. High blood levels of these amino acids results in physical disability, mental retardation, and may lead to death if untreated. MSUD is effectively treated with a diet that restricts the intake of eggs, dairy products, and meat.

Homocystinuria is due to the deficiency of an enzyme necessary to make methionine and homocysteine. Left untreated, homocystinuria can result in increased blood clotting, abnormal bone development, mental retardation, and vision problems. Treatment is the addition of supplements and a special diet will need to be followed.

Tyrosinemia is a very rare condition caused by the inability to use tyrosine, which builds up in the blood and can lead to mental retardation, language problems, and liver damage which may lead to death if untreated. Tyrosinemia is effectively treated by following a special diet.

Cystic Fibrosis is an inherited disease that results in an increased amount and thickness of mucous secreted within the digestive tract and lungs, leading to retarded growth, digestion and absorption problems, and multiple respiratory tract infections. While there is no cure for CF, symptoms can be controlled by the addition of a special diet for increased nutrition, and prevention of respiratory tract infections.

Toxoplasmosis is an infection caused by a parasite that can damage the eyes, muscles, and brain causing blindness, physical disability, and mental retardation. The parasite is found in uncooked or undercooked meat and cat feces, and is transmitted from the mother to her unborn baby through the placenta. Toxoplasmosis is very easily treated.

When any of the screening test results are positive, further testing will be done that is more specific to the disease identified.


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