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Metabolic Screenings at UPMC in Central Pa.

Metabolic screening tests your baby for several harmful and potentially fatal disorders that do not show signs or symptoms at birth.

Metabolic disorders and other inherited conditions can affect your baby's normal physical and mental development in a number of ways, such as interfering with her body's use of nutrients to maintain healthy tissues and produce energy, or causing problems with hormones or blood.

Even though these conditions are rare, early diagnosis and treatment can make the difference between lifelong impairment and healthy development.

Testing and Conditions

Metabolic screening is performed by pricking your baby's heel to obtain a small amount of blood, which is put on a test card and submitted to a state laboratory. The ideal time to perform the test is when your baby is between 24 and 48 hours old and again at 14 days old. If only one test is done, it should be performed between five and 15 days of age.

Metabolic screening tests for a number of conditions, including:

  • Biotinidase deficiency. Free biotin is a complex vitamin made by the body. In the event of a deficiency, a daily vitamin can be taken to help prevent severe skin rashes, eyesight and hearing problems, and brain damage.
  • Congenital adrenal hyperplasia. This condition prevents your baby’s body from making enough of certain hormones. Supplemental hormones can be taken to help prevent severe illness or death.
  • Congenital hypothyroidism. The lack of a thyroid hormone causes this condition. Taking the missing hormone helps prevent slow growth and mental retardation.
  • Galactosemia. Galactosemia prevents your baby’s body from processing a sugar found in milk, infant formula, breast milk and other foods. A special diet helps prevent damage to the brain, eyes and liver.
  • Hemoglobinopathies. These cause problems with red blood cells and can lead to anemia, infections, pain, slow growth and, in severe cases, death. Special medical care and penicillin are required to help prevent problems.
  • Amino acid disorders. Amino acid disorders prevent your baby’s body from breaking down certain amino acids, which are found in foods like meat, milk, baby formulas and breast milk. Special diets, vitamins and medicines help prevent serious problems.
  • Fatty acid oxidation disorders (FAOD). FAOD is caused by a missing enzyme needed to turn fat into energy. Treatment depends on the disorder your baby has but may include avoiding fasting, a special low-fat diet, and a medicine called carnitine.
  • Organic aciduria disorders (OA). OA prevents your baby’s body from processing certain amino acids and fatty acids. Treatment may include a special low-protein diet and/or medication. Propionic acidemia (PPA) is an example of an organic aciduria disorder.

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