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Newborn screening

  • Newborn screening checks for serious but rare conditions at birth.
  • All babies get newborn screening. But each state decides which tests are required.
  • Ask your baby’s health care provider which test your baby will have.
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Treatment of fatty acid oxidation disorders

Fatty acid oxidation disorders are rare health conditions that affect how a body breaks down fat. A baby with a fatty acid oxidation disorder can’t use fat for energy. This can cause low blood sugar and harmful substances to build up in his blood.

Babies get tested for some of these disorders right after birth. These tests are called newborn screening. Newborn screening tests for these fatty acid oxidation disorders:

  • Carnitine uptake defect (also called CUD)
  • Long-chain hydroxyacyl-CoA dehydrogenase deficiency (also called LCHAD)
  • Medium-chain acyl-CoA dehydrogenase deficiency (also called MCAD)
  • Trifunctional protein deficiency (also called TFP)
  • Very-long-chain acyl-CoA dehydrogenase deficiency (also called VLCAD)

For more information on these disorders, go to genetests.org.

With early diagnosis and treatment (usually lifelong treatment), most babies with these disorders can lead healthy lives. Without treatment, the disorders can lead to serious health problems and even death. This is why newborn screening right after birth is so important.

If your baby has one of these disorders, her health care provider may recommend that she see a doctor who’s an expert in treating the disorders, as well as a dietician. A dietician is a person with special training in helping people eat healthy.

Can your baby’s treatment include a special meal plan?

Yes. Babies and children with these disorders may need to follow a meal plan that’s high in carbohydrates (sugars) and low in fat. This means they can eat foods like bread, pasta, fruit, vegetables, lean meats and low-fat milk products (milk, cheese and yogurt). But they may need to avoid eating some high-fat foods.

Babies and children with these disorders may need to eat often to prevent health problems. For example, your baby may need to eat every 4 to 6 hours (or more often), including during the night.

Can your baby’s treatment include supplements?

Yes. A supplement is something you take in addition to what you eat that helps your body stay healthy. Supplements may come in a pill or in a shot. If your baby has one of these disorders, her provider may give her a prescription for certain supplements to help her body process the food she eats. For example:

  • Babies with CUD or MCAD may need a supplement called L-carnitine. It helps remove harmful substances from the body and helps the body make energy.
  • Babies with LCHAD, TFP or VLCAD may need L-carnitine and a supplement called medium chain triglyceride oil (also called MCT oil). These help the body make energy. Babies with LCHAD also may need a supplement called docosahexanoic acid (also called DHA) to help prevent vision loss.

Do you need to limit your baby’s physical activity to help treat these disorders?

It depends on your baby’s condition. Being active for long periods of time sometimes can bring on symptoms of the disorders.  So children with some of these disorders may need to cut down on physical activity. Talk to your child’s doctor to find out if you need to cut down on some of your child’s activities.

Last reviewed January 2014

See also: Fatty acid oxidation disorders, Newborn screening 

Most common questions

How many health conditions should your baby be screened for?

The March of Dimes would like to see all babies in all states screened for at least 31 health conditions. Many of these health conditions can be treated if found early.

 

Today all states require newborn screening for at least 26 health conditions. Forty-two states and the District of Columbia screen for 29 of the 31 recommended conditions. Some states require screening for up to 50 or more. Ask your health care provider how many conditions your state requires.

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