Metabolic Disorders

This section describes some of the most common metabolic disorders babies have in the NICU:

• Galactosemia
• Hypothyroidism
• Medium-chain acyl-CoA dehydrogenase deficiency
• Phenylketonuria
• Sickle cell disease


galactosemia (guh-lak-toh-SEE-mee-uh)
What it is: A genetic condition (a condition caused by a gene that’s changed from its regular form) in which a baby’s body can’t break down the sugar in any kind of milk, including breast milk and cow’s milk. A baby with this condition can get brain damage or even die if she eats or drinks milk products.

Treatment: All babies have a newborn screening test for galactosemia. Newborn screening checks for serious but rare and mostly treatable conditions at birth. It includes blood, hearing and heart screening. A baby with galactosemia gets a special formula that is not made with milk of any kind.


hypothyroidism (hye-poh-THYE-roid-iz-uhm)
What it is: A condition in which a baby’s thyroid gland isn’t working well or is missing. The thyroid gland makes hormones (chemicals made by the body) that control things like how fast the heart beats and how quickly the body uses calories. Babies born with this condition may have a puffy face, have trouble feeding, have poor muscle tone and be very sleepy.

Treatment: All babies have a newborn screening test for hypothyroidism. Newborn screening checks for serious but rare and mostly treatable conditions at birth. It includes blood, hearing and heart screening. Providers use medicine to treat this condition. After starting the medicine, babies get blood tests to make sure their thyroid hormone levels are normal. If treatment begins in the first month after birth, most babies develop and grow in a normal way. If untreated, this condition can lead to problems with intellectual abilities and growth.


medium-chain acyl-CoA dehydrogenase deficiency (MEE-dee-uhm-chayn as-eelco-a dee-hye-DRUH-juh-naze dee-FIshuhn-see)
What it is: Also called MCAD deficiency. A genetic condition (a condition caused by a gene that’s changed from its regular form) that stops the body from changing certain fats to energy. Babies with this condition may eat foods that their bodies can’t break down and use. It can cause serious health problems, such as hypoglycemia (low blood sugar), seizures (a sudden change in the brain’s electrical activity), breathing problems, problems with their liver (an organ that helps digest food, store energy, and remove harmful substances from the body), brain damage, coma and sudden death.

Treatment: All babies have a newborn screening test for MCAD. Newborn screening checks for serious but rare and mostly treatable conditions at birth. It includes blood, hearing and heart screening. Treatment includes working with a medical specialist, such as a medical geneticist, who is an expert in treating this condition and a dietician who can tell parents which foods are safe for their baby.
Babies who get early and careful treatment can live healthy lives. The goal of treatment is to prevent long-term problems.


phenylketonuria (fen-uhl-kee-toh-NUR-ee-uh)
What it is: Also called PKU. A genetic condition (a condition cased by a gene that’s changed from its regular form) in which a baby’s body can’t break down an amino acid called phenylalanine. Amino acids help build protein in your body. Without treatment, phenylalanine builds up in the blood. This can cause serious health problems, including intellectual disabilities (problems with how the brain works that can cause a person to have trouble or delays in learning, communicating, taking care of himself or getting along with others).

Treatment: All babies have a newborn screening test for PKU. Newborn screening checks for serious but rare and mostly treatable conditions at birth. It includes blood, hearing and heart screening. Early treatment can help babies live healthy lives. A baby with PKU needs to begin to eat foods that are low in phenylalanine within the first 7 to 10 days after birth and continue for the rest of his life. A dietician can tell parents which foods are safe for their baby. During the first year, a baby with PKU gets a blood test each week to check levels of this amino acid. After that, he may have blood tests once or twice a month throughout childhood.


sickle cell disease (SIK-uhl sel duh-ZEEZ)
What it is: Also called SCD. A genetic disease that causes red blood cells to be shaped like a “C.” Red blood cells are the part of blood that brings oxygen to different parts of the body. In a healthy person, red blood cells are round and flexible. They flow easily in the blood. A person with SCD has red blood cells that are stiff and can block blood flow. This can cause pain, infection (an illness caused by some viruses, bacteria or other germs), organ damage and strokes (when blood supply to part of the brain is interrupted or reduced).

Treatment: All babies have a newborn screening test for SCD. Newborn screening checks for serious but rare and mostly treatable conditions at birth. It includes blood, hearing and heart screening. There is no one best treatment for babies with SCD. Some babies with SCD are mostly healthy, and others nee special medical care. Treatment is different for each baby depending on her symptoms. She may be treated with pain medicine and antibiotics (medicines that kill infections caused by bacteria). She may need a blood transfusion to put new blood into her body.