Metabolic screening will test your baby for several harmful and potentially fatal disorders that don't 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. These can include interfering with their body's use of nutrients to maintain healthy tissues and produce energy. They can also cause problems with hormones or blood.
These conditions are rare. However, early diagnosis and treatment can make the difference between lifelong impairment and healthy development.
How Do We Screen for Metabolic Conditions?
Metabolic screening involves pricking your baby's heel to obtain a small amount of blood. The blood then goes onto a test card, which then goes 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 your baby only gets one test, it should happen between 5 and 15 days of age.
What Metabolic Disorders Do We Screen for and Treat?
Metabolic screening tests for a number of conditions, including:
- Amino acid disorders — Amino acid disorders prevent your baby’s body from breaking down certain amino acids. These amino acids are in foods like meat, milk, baby formula, and breast milk. Special diets, vitamins, and medicines can help prevent serious problems.
- Biotinidase deficiency — Free biotin is a complex vitamin made by the body. In the event of a deficiency, a daily vitamin can 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 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.
- Fatty acid oxidation disorders (FAOD) — Missing an enzyme that's necessary to turn fat into energy can lead to FAOD. Treatment depends on the disorder your baby has but may include avoiding fasting, a special low-fat diet, and a medicine called carnitine.
- Galactosemia — Galactosemia prevents your baby’s body from processing a sugar found in milk, infant formula, breast milk, and other foods. A special diet can help 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 necessary to help prevent problems.
- Organic aciduria disorders (OADs) — OADs prevent 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 one example of an organic aciduria disorder.
By UPMC Editorial Staff. Last reviewed on 2024-09-05.
