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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 organic acid metabolism disorders

Organic acid metabolism disorders are rare health conditions that affect a body’s metabolism. Metabolism is the way your body changes food into the energy it needs to breathe, digest food and grow.

Babies get tested for some of these disorders right after birth. These tests are called newborn screening. The March of Dimes recommends that all babies be screened for these organic acid metabolism disorders:

  • 3-methylcrotonyl-CoA carboxylase deficiency (also called 3MCC)
  • Beta-ketothiolase deficiency (also called BKT)
  • Glutaric acidemia type 1 (also called GA1)
  • Hydroxymethylglutaric aciduria (also called HMG)
  • Isovaleric acidemia (also called IVA)
  • Methylmalonic acidemia, CblA and CblB forms (also called Cbl A,B)
  • Methylmalonic acidemia, mutase deficiency form (also called MUT)
  • Multiple carboxylase deficiency (also called MCD)
  • Propionic acidemia (also called PROP)

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

With early diagnosis and 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. People with these conditions usually need treatment for their whole life.

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. People with these disorders usually need to limit certain foods. For example, depending on the disorder, they may need to limit foods that have a lot of protein, like meats, poultry, fish, eggs, milk and other dairy products. Your baby may need to have foods, like pasta, rice or formula, that are specially made to be low in protein. These special foods are made just for people with these kinds of disorders.

Babies and children with many of these disorders may need to eat often to prevent health problems. For example, if your baby has one of these disorders, she 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 IVA may need glycine or L-carnitine supplements. These supplements help remove harmful substances from the body and help the body make energy.
  • Babies with GAI may need riboflavin or L-carnitine supplements. Riboflavin is a vitamin that helps the body use protein.
  • Babies with BKT, HMG or 3MCC may need an L-carnitine supplement.
  • Babies with MCD usually need a biotin supplement. Biotin is a vitamin that helps the body break down food.
  • Babies with CBL A,B, MUT and PROP may need the supplements L-carnitine and vitamin B12.

What other treatments are used for these disorders?

Depending on your baby’s condition, he may need other treatments, including:

  • Antibiotics. These are medicines that kill infections caused by bacteria. If your baby has Cbl A,B, MUT or PROP, his provider may treat him with antibiotics.
  • Other medicines. If your baby has one of the disorders and is sick with something like a cold or the flu, she may need a medicine called bicarbonate to help lower harmful substances in the blood. She also may get glucose. Glucose is a sugar that helps give the body energy. Both of these medicines usually are given by IV (through a needle into a vein).
  • Transplants. A transplant is an operation in which a surgeon removes a damaged organ and replaces it with a healthy one from another person. Some children with PROP may need a liver transplant. Some children with Cbl A,B and MUT may need a liver or kidney transplant.

Last reviewed January 2014

See also: Organic acid metabolism 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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