Fatty acid oxidation disorders
Your baby gets newborn screening tests before he leaves the hospital after birth. These tests look for rare but serious and mostly treatable health disorders that affect how the body works. Your baby’s newborn screening may include testing for certain fatty acid oxidation disorders. These are rare health conditions that affect how a body breaks down fat.
A healthy body uses glucose (sugar) for energy. When the body uses all the glucose it has, it gets energy from 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.
These conditions are inherited. This means they’re passed from parent to child through genes. Genes are parts of your body's cells that store instructions for the way your body grows and works. In the United States, all babies have newborn screening tests to see if they may have certain inherited conditions when they’re born.
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.
For more information on these disorders, go to genetests.org.
What fatty acid oxidation disorders are tested for in newborn screening?
The March of Dimes recommends that all babies be screened for these fatty oxidation disorders:
Carnitine uptake defect (also called CUD). Carnitine is a substance that helps the body turn fat into energy. People with CUD can’t use this carnitine correctly. Fewer than 1 in 100,000 babies is born with CUD each year in the United States. Children with CUD usually have symptoms between birth and age 7, but some never have symptoms. CUD also is called primary carnitine deficiency and carnitine transporter deficiency.
Long-chain hydroxyacyl-CoA dehydrogenase deficiency (also called LCHAD). About 1 in 75,000 babies is born with LCHAD each year in the United States. Children generally have symptoms by about age 1.
Medium-chain acyl-CoA dehydrogenase deficiency (also called MCAD). More than 1 in 25,000 babies is born with MCAD each year in the United States. Symptoms most often occur in babies or young children. It’s rare for symptoms to begin in adults.
Trifunctional protein deficiency (also called TFP). Fewer than 1 in 100,000 babies is born each year with TFP in the United States. There are three kinds of TFP:
- Early TFP. In this kind of TFP, babies can have signs and symptoms any time through age 2. If untreated, these babies often die from heart or lung problems by age 3.
- Childhood TFP. In this kind of TFP, children have signs and symptoms after age 1. Repeat TFP symptoms in children can cause brain damage. This can lead to learning problems or intellectual disability. Some children with childhood TFP may feel muscle weakness or pain after they exercise hard, they are sick or have some other kind of body stress.
- Mild TFP. This kind of TPF is rare. Symptoms begin any time after age 2, including as an adult.
Very-long-chain acyl-CoA dehydrogenase deficiency (also called VLCAD). More than 1 in 75,000 babies is born with VLCAD each year in the United States. There are three kinds of VLCAD:
- Early VLCAD. In this kind of VLCAD, a baby has symptoms by 4 months of age. About half of all babies with VLCAD have early VLCAD.
- Childhood VLCAD. In this kind of VLCAD, symptoms appear closer to a baby’s first birthday or in early childhood. About one-third of all people with VLCAD have childhood VLCAD.
- Adult VLCAD. About 20 percent of with VLCAD have this kind. Symptoms appear in the teen years or adulthood.
What are signs and symptoms of these disorders?
Signs and symptoms of these disorders usually occur in babies or young children. Some of these disorders can first appear in adults, but this is rare. Illness or infection, eating the wrong kinds of foods, or going for a long time without eating can bring about signs and symptoms of these disorders.
Signs and symptoms include:
- Changes in behavior
- Diarrhea, nausea (feeling sick to your stomach) and throwing up
- Little appetite
- Loss of feeling in the arms and legs
- Low blood sugar
- Muscle pain, cramps or weakness
- Vision problems
What health problems can these disorders cause?
If not treated, some of these disorders can cause health problems, including:
- Anemia. This is when you don’t have enough healthy red blood cells to carry oxygen to the rest of your body.
- Brain damage
- Breathing problems
- Heart, liver and lung problems
- Intellectual and developmental disabilities. These are problems with how the brain works that can cause a person to have trouble or delays in physical development, learning, communicating, taking care of himself or getting along with others.
If not treated, some of the disorders can lead to death.
See also: Newborn screening
Last reviewed: January, 2014