General Condition Information
- Very long chain acyl CoA dehydrogenase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Very long chain acylCoA dehydrogenase deficiency
- Very long-chain acyl-CoA dehydrogenase
- Very long-chain ACYL-COA dehydrogenase deficiency
- Very-long chain acyl-CoA dehydrogenase deficiency
- Very-long-chain acyl-CoA dehydrogenase deficiency
- VLCAD deficiency
- It is estimated that less than 150 babies are born with VLCAD deficiency each year in the United States.
- Visit GeneReviews to learn more about how often this condition occurs.
What is Very long-chain acyl-CoA dehydrogenase deficiency
VLCAD is an enzyme that processes types of fat called very long-chain fatty acids. This enzyme helps break down these fatty acids so your body can use or get rid of them.
Without enough of this enzyme, the body has trouble using fats for energy. This condition can be more or less severe depending on how much of the enzyme your baby can make.
Breaking down fat for energy allows your body to work properly, and it is especially important after a long time without food (fasting) and during illness. If your body does not make enough energy from fat, blood sugar levels can become dangerously low.
When fats are not processed, waste (including toxins) can build up and damage your liver, heart, and muscles.
Newborn Screening and Follow-Up
Newborn screening for VLCAD deficiency is done using a small amount of blood collected from your baby’s heel. To learn more about this process, visit the Blood Spot Screening page.
During screening, a special machine measures how much of certain substances (called acylcarnitines) are in your baby’s blood. Your body produces these substances when it makes energy from fats. Babies with high levels of these substances might have VLCAD deficiency.
If your baby’s blood spot screening result for VLCAD deficiency is out-of-range, your baby’s health care provider will contact you. Together, you will discuss next steps and follow-up plans.
An out-of-range screening result does not mean that your baby definitely has the condition. It does mean that your baby needs more follow-up testing. To learn more about screening results, visit the Blood Spot Screening Results page.
Your baby may need the following tests after an out-of-range screening result:
- Blood and/or urine tests
- Echocardiogram and/or other heart tests
- Genetic testing using a blood sample
- Small skin sample
You should complete any recommended follow-up testing as soon as possible. Babies with this condition can have serious health problems if they are not diagnosed and treated quickly.
Newborn screening helps babies lead healthier lives. If your baby has an out-of-range result, follow up with your health care provider quickly. It is important to follow their instructions. Your baby may need to get treatment right away, even if they are not showing signs or symptoms. In some cases, your baby’s health care provider may decide it is best to watch (monitor) your baby to decide next steps. Careful monitoring and early treatment will help your baby stay as healthy as possible.
Signs of VLCAD deficiency can vary widely and may appear anytime from a few months of age to adulthood. Common illnesses, like a cold or flu, or a long time without food can trigger symptoms
Signs of the condition may include the following:
- Tiredness or lack of energy (lethargy)
- Enlarged liver (hepatomegaly)
- Heart problems (can be life-threatening)
- Low blood sugar (hypoglycemia)
The condition is caused by a change in the ACADVL gene. This gene gives the body instructions for making very long-chain acyl-CoA dehydrogenase. VLCAD is an enzyme that breaks down a certain type of fat, called “very long-chain fatty acids.” This type of fat is an important source of energy for the heart, liver, and muscles.
Without an ACADVL gene, your baby’s body cannot make enough very long-chain acyl-CoA dehydrogenase. As a result, their body cannot properly break down fat to make energy and get rid of toxins.
- VLCAD deficiency is an autosomal recessive condition. Babies inherit the condition when each parent passes down a nonworking ACADVL gene to their baby. Only babies with two nonworking ACADVL genes—one from the mom and one from the dad—have this condition.
- People with one working copy and one nonworking copy of the ACADVL gene are called carriers.
- Carriers do not have or develop the condition. However, they may pass down a nonworking copy of the gene to their children.
- If two parents are carriers of a nonworking copy of the ACADVL gene, they have a 1 in 4 chance of having a child with VLCAD deficiency.
- Carriers for VLCAD deficiency often do not know they are carriers before having a child with the condition. In most cases, families have no history of the condition until the birth of a child with VLCAD deficiency.
- Parents who already have a child with VLCAD deficiency still have a 1 in 4 chance of having another child with VLCAD deficiency. This 1 in 4 chance stays the same for all future children.
- Genetic counselors and medical geneticists can help families learn about this condition and the chance of having children with it. Visit the National Society of Genetic Counselors to find a genetic counselor and the American College of Medical Genetics and Genomics to find a medical geneticist.
Treatment and Management
It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition.
Treatments may include the following:
- Regular and frequent meals and snacks
- Diet high in carbohydrates and low in fat
- Medium chain triglyceride (MCT) oil to help give the body fats it can break down
- L-carnitine supplements to help the body break down fats
- People with VLCAD deficiency must be very careful if they get sick and have vomiting or diarrhea, or do not want to eat. They may need emergency care to prevent low blood sugar levels.
Children who receive early and ongoing treatment for VLCAD deficiency can have healthy growth and development.