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Detecting Problems

By BRENT SNYDER,
The Beaumont Enterprise

Newborns in Texas are screened for five disorders and diseases.

  • Phenylketonuria (PKU) is caused by a missing enzyme needed to properly digest a food protein called phenylalanine. As the phenylalonine builds up in the body, deposits can cause brain damage. The condition is treated with a special baby's formula. PKU occurs in about one of every 17,000 babies.
  • Galactosemia is caused by a missing enzyme needed to properly digest galactose, which is most commonly found in milk products. This condition blocks the breakdown of galacta polymers in sugars once they are stored in the body, resulting in deposits that can cause liver damage, cataracts, mental retardation and severe infections of the blood. It is treated with a special baby's formula. Galactosemia occurs in about 1 of every 7,500 babies.
  • Major anemias are caused by abnormally shaped red blood cells. This test checks primarily for sickle cell anemia, thalassemia anemia and abnormalities of hemoglobin synthesis. If not treated, the diseases can cause several anemias and blood infections that can cause death within a few weeks from birth. It is treated with antibiotics and occurs in about 1 of every 1,300 babies. In babies of African-American descent, the rate of sickle cell anemia is about 1 of every 400 births.
  • Congenital hyperthyroidism is caused by an inadequate production of growth hormones. If left untreated, congenital hypothyroidism can cause decreased growth, lethargy and mental retardation. The condition is treated with medication, and occurs in about 1 of every 4,500 babies.
  • Congenital adrenal hyperplasia is caused by a missing enzyme needed to make energy for the body to function properly. Children suffering from this condition have trouble metabolizing some of the hormones in the adrenal glands, resulting in seizures, heart failure and death within a few days. The condition is treated with medication, and occurs in about 1 of every 21,500 babies.

     

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