General Condition Information
- LCHAD deficiency
- Long chain 3 hydroxyl acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Long chain 3-OH coA dehydrogenase deficiency
- Long chain hydroxy acyl-CoA dehydrogenase deficiency
- Long chain hydroxyacyl CoA dehydrogenase deficiency
- Long chain hydroxyacyl-CoA dehydrogenase deficiency
- Long chain hydroxyl acylCoA dehydrogenase deficiency
- Long-chain 3-OH acyl-CoA dehydrogenase deficiency
- Long-chain hydroxyacyl‑COA dehydrogenase deficiency
- Long-chain L-3 hydroxy acyl-CoA dehydrogenase deficiency
- Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
- Long-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency
- Long-chain L-3-hydroxyacyl-CoA dehydrogenase
- Long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
- Long-chain L-3-OH acyl-CoA dehydrogenase deficiency
- The number of babies born with this very rare condition is currently unknown.
- This condition may be more common in babies of Finnish descent.
What is Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Certain enzymes help process a type of fat called long-chain fatty acids. Without enough of these enzymes, your baby will have trouble using fats for energy. This condition can be more or less severe depending on how much of these enzymes your baby can make.
Breaking down fat for energy allows the body to work properly, and it is especially important after a long time without food (fasting) and during illness. If your baby 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 heart, muscles, and eyes. If untreated, the lack of energy and increased toxins lead to the signs and symptoms of the condition.
Newborn Screening and Follow-Up
Newborn screening for LCHAD 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 LCHAD deficiency.
If your baby has LCHAD deficiency, this condition could have caused their mother to experience health problems during the pregnancy. If the baby's mother had acute fatty liver of pregnancy (AFLP) or hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome, screening your baby for LCHAD deficiency is even more important.
If your baby’s blood spot screening result for LCHAD 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
- Genetic testing using a blood 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 LCHAD deficiency can vary widely and may appear anytime from infancy to adulthood. Common illnesses, like a cold or flu, or going a long time without food can trigger symptoms.
Signs of the condition may include the following:
- Problems feeding
- Tiredness or lack of energy (lethargy)
- Enlarged liver (hepatomegaly)
- Eye problems (retinopathy)
- Heart problems (cardiomyopathy)
- Low blood sugar (hypoglycemia)
The condition is caused by a change in the HADHA gene. This gene gives the body instructions for making a complex enzyme called the “mitochondrial trifunctional protein.” This enzyme complex helps break down long-chain fatty acids, a type of fat. Long chain fatty acids are an important source of energy.
Without a working HADHA gene, your baby cannot make enough of this complex enzyme. As a result, they cannot properly break down fat to make energy and get rid of toxins.
- LCHAD deficiency is an autosomal recessive condition. Babies inherit the condition when each parent passes down a nonworking HADHA gene to their baby. Only babies with two nonworking HADHA genes—one from the mom and one from the dad—have this condition.
- People with one working copy and one nonworking copy of the HADHA 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 HADHA gene, they have a 1 in 4 chance of having a child with LCHAD deficiency.
- Carriers for LCHAD 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 LCHAD deficiency.
- Parents who already have a child with LCHAD deficiency still have a 1 in 4 chance of having another child with LCHAD 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 LCHAD 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 LCHAD deficiency can have healthy growth and development. Continuing care is needed for problems that occur later in affected people (muscle and vision problems).