Acyl-coa dehydrogenase, very long-chain, deficiency of

If you have a child with Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD), all your subsequent children should be tested for VLCADD at birth. In addition, it is possible that if you have other children, that they might also have VLCADD, even if they have not shown any symptoms. Ask your metabolic doctor about whether or not they should be tested. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. If you are looking for a metabolic clinic for treatment in the United States, you can search for the clinic or clinics in your state.

The metabolic genetics clinic that cares for you or your family member may be able to help connect you with other families in your area with Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD). There are also online family support organizations where you will be able to meet other families.
The primary support group for VLCADD is the Fatty Acid Oxidation Disorder Family Support Group. This support group offers support for families dealing with any of the larger category of genetic disorders that affect the bodies ability to burn fat for energy.

Fatty acid oxidation disorders are part of a larger group of disorders called "mitochondrial diseases." And so support groups for people with mitochondrial diseases may also be of help. The largest of these groups in the US is the United Mitochondrial Disease Foundation (UMDF)

A person with Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) should be seen by a doctor called a "medical geneticist", "metabolic physician" or "biochemical geneticist" who usually works with a "metabolic dietitian". These specialists are familiar with VLCADD. If your child has had a positive newborn screening test for VLCADD, the newborn screening program in your state will be able to refer you to a metabolic geneticist and dietitian. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. If you are looking for a metabolic clinic for treatment in the United States, you can search for the clinic or clinics in your state.
A metabolic dietician can be found through the Genetic Metabolic Dieticians International webpage. A genetic professional can also be found on the Genetic Testing Registry Homepage.

Speak to your metabolic physician and plan ahead for when your baby will be sleeping longer at night. Initially, you may be told to wake your baby frequently to feed him/her. As he/she gets older, you can may be able to let him or her sleep longer unless they are sick. Your doctor may also give you instructions about certain kinds of foods or supplements such as medium chain triglyceride (MCT) oil or cornstarch that may help a sleeping child go longer without food.
During this phase it is important that you stay in touch with your metabolic physician and adjust your child’s sleep schedule and feeding to avoid long periods without eating.

The letter typically includes:

Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency, or VLCADD, is a genetic disease in which the body is not able to properly break down fat to create energy. The body usually gets its energy by breaking down ("burning") sugars and fats. People with VLCADD are able to break down sugar normally but, because of a problem in the gene called ACADVL, they are not able to break down a type of fat called "very long chain fatty acids."

When a person with VLCADD is healthy and eating regularly, they are able to get enough energy from the sugars in their diet and they appear totally healthy. However, when a person with VLCADD goes a long time without eating and their body tries to burn fat for energy, they can become sick. Common reasons for going without food include illness or when babies begin to sleep through the night.

There are different forms of VLCADD. Symptoms that may occur when a person with a more severe form of VLCADD goes a long time without eating can include low blood sugar (hypoglycemia), enlarged liver, and heart disease. If not treated, it can lead to coma and death. Early diagnosis through newborn screening can help parents learn the best way to feed their child and to get treatment when the child becomes sick.
A milder form of VLCADD occurs in older children and adults and may cause muscle pain, muscle cramps, and difficulties when exercising.

The best person to figure out whether an individual has VLCADD is a doctor who specializes in metabolic disorders, such as a metabolic geneticist. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website.

Carnitine is a vitamin that is found in many foods. The body uses carnitine to help burn fat for energy. Carnitine is used in treating some other disorders that are related to Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD).

The use of carnitine is controversial and different metabolic centers have different recommendations. Talk to your metabolic physician if you have questions about whether carnitine supplements should be tried in you or your child.

A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. If you are looking for a metabolic clinic for treatment in the United States, you can search for the clinic or clinics in your state.
A metabolic dietician can be found through the Genetic Metabolic Dieticians International webpage.

Emergency protocol letters provide information about your/your child’s diagnosis of Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) and give specific treatment instructions to health care providers in emergency rooms or other health care settings that are not familiar with the diagnosis of VLCADD. Because children with VLCADD can have their blood sugar levels drop quickly to dangerously low levels when they become ill, they often require intravenous (IV) glucose in situations when a child without VLCADD would recover on their own without treatment. If healthcare providers are not familiar with you/your child and the diagnosis of VLCADD, there may be a delay in treatment.
The emergency protocol letter will provide the necessary information to explain the diagnosis and correct treatments so that a health care provider not familiar with VLCADD will be able to provide the correct treatment for a person with VLCADD as quickly as possible.
Up to date protocol letters should be carried at all times with the family or caregiver of the child. Many people have found it helpful to keep the letter in a plastic folder or bag in the child’s diaper bag. It may be necessary to have multiple copies of the letter to be able to have them available to all parents and caregivers. It may also be helpful keep copies of the letter at local hospitals, but because these can take time to access, a hard copy of the letter should also be with the child.
Speak with your metabolic physician to develop an emergency protocol letter.

Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) is caused by changes (mutations) in the gene called ACADVL which provides instructions for making the enzyme or protein called "very long-chain acyl-coenzyme A dehydrogenase" or VLCAD which breaks down fat for energy.

Different mutations in the gene create different problems in the enzyme. Some mutations prevent the enzyme from breaking down very long chain fatty acids at all. Other mutations allow the enzyme to break down some fat, but the work is done much more slowly. The different forms of VLCADD have to do with how well the enzyme works. In the most severe forms, the enzyme does not work at all or works only very little. In the more mild forms, the enzyme is still able to work, but not as efficiently as possible.

In order to learn more about the specific genes involved in VLCAD deficiency, people can speak with a metabolic physician or a genetic counselor. Genetic counselors can be found on the National Society of Genetic Counselors website.

If you child will need to go without eating because of surgery, have the surgeon work with your metabolic physician to plan the best way to prepare for surgery and guarantee that you/ your child receives adequate nutrition before and during surgery. Sometimes, individuals with Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) are admitted to the hospital the night before surgery.

Individuals with the later-onset episodic myopathic form of Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCAD) usually start having problems when they are older children and adults. It causes muscle cramps and pain, difficulty with exercise, and periods in which muscle tissue breaks down (intermittent rhabdomyolysis).

The best person to figure out whether an individual has VLCADD is a doctor who specializes in metabolic disorders, such as a medical geneticist. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. If you are looking for a metabolic clinic for treatment in the United States, you can search for the clinic or clinics in your state.

Children with the hepatic or hypoketotic hypoglycemic form of Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) may develop enlarged livers (hepatomegaly) and low blood sugar (hypoglycemia) without the chemicals usually found in the body when people are burning fat for energy. These chemicals, which are not found in high levels in children with VLCADD, are called "ketones." The term "hypoketotic hypoglycemia" means that the person has low blood sugar but these chemical markers of burning fat for energy, which usually found in urine and blood tests, are not present.
Hypoglycemia can cause a child to feel weak, shaky and/or dizzy with clammy, cold skin. If not treated, it can lead to coma, and possibly death.
Children with this form of VLCADD do not usually have heart problems.

The best person to figure out whether an individual has VLCADD is a doctor who specializes in metabolic disorders, such as a medical geneticist. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. If you are looking for a metabolic clinic for treatment in the United States, you can search for the clinic or clinics in your state.

Because the heart muscles typically use fat for energy, children with severe early-onset Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) usually develop heart problems in the first few months of their lives. The problems include heart muscle disease (cardiomyopathy), build up of fluid around the heart (pericardial effusions) and problems with the heart rhythm (arrhythmia). They may also have enlarged livers (hepatomegaly) and low blood sugar (hypoglycemia).
Symptoms occur in the first few months of life. Without early diagnosis and treatment, many children with the severe form of VLCADD will die or have lifelong medical problems.

The best person to figure out whether an individual has VLCADD is a doctor who specializes in metabolic disorders, such as a metabolic geneticist. Metabolic geneticists can be found in an area by using the "Find Genetic Service" function at the American College of Medical Genetics website at Find Genetic Service. If you are looking for a metabolic clinic for treatment in the United States, you can search for the clinic or clinics in your state.

The next steps depend on the age of the individual and the symptoms that they have had or are having. For example, people affected by the severe forms of the condition who have symptoms of low blood sugar, should immediately be given intravenous (IV) glucose, a form of sugar that the child can burn for energy. Individuals who are not currently having symptoms should see a metabolic genetics specialist, learn about the condition, its symptoms, and treatment and should make sure that their health care providers are aware of the condition. Families should carry a letter from their doctor clearly stating the diagnosis and details of recommended treatment for low blood sugar that they can show at the emergency room if their child gets symptoms. Speak with your metabolic physician to discuss what treatments are recommended.

If a newborn screening result suggests Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD), the child should be evaluated for signs of the disease. This evaluation should be performed as soon as possible by a physician. The family may be referred to a local emergency room for evaluation. Signs of VLCADD include poor feeding, low energy, sleepiness, low tone, large liver, heart rhythm problems. If any of these signs are present, treatment should start immediately.

The family should be educated about the importance of regular feeding and the importance of seeking treatment immediately if the child becomes ill (poor feeding, vomiting, low energy).
Because newborn screening is not diagnostic, further testing will be performed to confirm the diagnosis. Follow-up testing to confirm the diagnosis should be done regardless of whether the child has symptoms.
To learn more, you can speak to your child’s pediatrician and the newborn screening follow up program about what to do if your child’s newborn screen is positive for a metabolic disorder.

A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. If you are looking for a metabolic clinic for treatment in the United States, you can search for the clinic or clinics in your state.
A metabolic dietician can be found through the Genetic Metabolic Dieticians International webpage.

Infants and children with Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) will not typically show symptoms when they are healthy and eating regularly. However, when they are not able to eat enough calories in the form of sugar, and their bodies attempt to burn fat for energy, they can become sick. Anything that prevents them from getting enough calories from sugars in foods can cause them to get symptoms.
The common triggers are:

There is treatment for Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD). The treatment and management of VLCADD depends on the type of VLCADD that a child or adult has and its severity.

In general, treatment involves avoiding fasting and seeking treatment when the person is not well. These situations occur when going a long time without eating, when sick, undergoing surgery, or when doing strenuous exercise. Treatment may also include dietary management and supplements. Speak with your metabolic physician to discuss what treatments are recommended.

Grief support is available through the Fatty Acid Oxidation Disorder (FOD) support group at https://fodsupport.org/grief.
A grief support brochure is available at https://www.fodsupport.org/documents/Jan2014GriefConsultbrochure.pdf

All US states include Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) in their newborn screening programs. If you are concerned that your child may have VLCADD, you can speak with your child’s pediatrician to review the newborn screening results.

Yes. There are 3 major kinds of testing for Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD):

There are doctors and scientists doing clinical research on Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD). This includes research to better understand the way that body metabolizes very long chain fatty acids and alternative sources of energy. Some studies look at which forms of calorie supplements are most beneficial for people with VLCADD.
You can find additional information about research for VLCADD at these websites:

Individuals with the more severe forms of Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) should avoid going a long time without eating. They should be given frequent meals. If a person with VLCADD does go without eating and their blood sugar levels drop, they should be treated with intravenous (IV) glucose as an energy source. They should also be monitored for heart rhythm disturbance, and the breakdown of heart muscle tissue.

Children with hepatic or hypoketotic hypoglycemic form of VLCADD are usually given a low-fat formula, with additional calories given in the form of a medium-chain triglyceride oil (MCT oil). MCT oil is a kind of fat that only contains medium chain fatty acids, but does not contain any very long chain fatty acids. People with VLCADD are able to burn medium chain fats for energy, even when they are not able to burn other kinds of fat. The low fat diet varies for each child but often ranges from 13%-39% of calories as total fat, and then another 15%-18% of calories supplied as MCT [Solis & Singh 2002].

Families should carry a letter from their doctor clearly stating the diagnosis and details of recommended treatment for low blood sugar that they can show at the emergency room if their child gets symptoms. Speak with your metabolic physician and dietitian to discuss what specific treatments are recommended.

A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. If you are looking for a metabolic clinic for treatment in the United States, you can search for the clinic or clinics in your state.
A metabolic dietician can be found through the Genetic Metabolic Dieticians International webpage.

Individuals with the more severe forms of Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) should avoid going a long time without eating. They should be given frequent meals. If a person with VLCADD does go without eating and their blood sugar levels drop, they should be treated with intravenous (IV) glucose as an energy source. They should also be monitored for heart rhythm problems, and the breakdown of heart muscle tissue.

If heart muscle is breaking down, the child should be well hydrated (receive plenty of fluids either by mouth or intravenously). This will protect the kidneys from damage which can occur when the byproducts of the muscle breakdown reach the kidneys. Heart problems may be reversible with early, intensive supportive care and modified diet.

Children with severe early-onset cardiac and multi-organ failure form of VLCADD are usually given a low-fat diet, with additional calories given in the form of a medium-chain triglyceride oil (MCT oil). MCT oil is a kind of fat that only contains medium chain fatty acids, but does not contain any very long chain fatty acids. People with VLCADD are able to burn MCT oil for energy, even when they are not able to burn other kinds of fat. The low fat diet varies for each child but often ranges from 13%-39% of calories as total fat, and then another 15%-18% of calories supplied as MCT oil.

Families should carry a letter from their doctor clearly stating the diagnosis and details of recommended treatment for low blood sugar that they can show at the emergency room if their child gets symptoms.
Speak with your metabolic physician and metabolic dietitian to discuss what specific treatments are recommended.

A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. If you are looking for a metabolic clinic for treatment in the United States, you can search for the clinic or clinics in your state.
A metabolic dietician can be found through the Genetic Metabolic Dieticians International webpage.

People with later-onset episodic myopathic Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) should pay attention to their symptoms and avoid situations which causes them to break down muscle (rhabdomyolysis). People experiencing rhabdomyolysis typically have muscle pain and dark tea or cola colored urine.

They may also benefit from taking medium-chain triglyceride oil (MCT oil). MCT oil is a kind of fat that only contains medium chain fatty acids, but does not contain any very long chain fatty acids. People with VLCADD are able to burn MCT oil for energy, even when they are not able to burn other kinds of fat. Some people with later-onset episodic myopathic VLCADD may be able to increase their tolerance for exercise by supplementing with MCT oil. Speak with your metabolic physician to discuss what specific treatments are recommended.

A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. If you are looking for a metabolic clinic for treatment in the United States, you can search for the clinic or clinics in your state.
A metabolic dietician can be found through the Genetic Metabolic Dieticians International webpage.

If a child dies of SIDS, testing for Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) can be done as part of an autopsy. This testing should be considered in unexplained deaths of infants or children.
Testing for signs of VLCADD can be done on liver tissue, skin, plasma, or blood.
If these analyses show signs of VLCADD, genetic testing can be done on tissue samples and the newborn screening blood spot, if still available, can tested or retested.
You can find more information about autopsies for children who died of SIDS at http://sudc.org/.

The way in which Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) is inherited is called "autosomal recessive." This means that to be affected, a person must have a difference (mutation) in both copies of the ACADVL gene in each cell.
The parents of a child with VLCADD usually each carry one copy of the gene containing a mutation. The parents are referred to as carriers. Carriers do not show signs or symptoms of the condition. When two carriers of the same autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% (1 in 4) chance to not have the condition and not be a carrier.

In order to learn more about the genetics of VLCADD, people can speak with a genetic counselor. Genetic counselors can be found on the National Society of Genetic Counselors website.

You should discuss with your metabolic doctor and metabolic dietitian about what to do when you are concerned about your child’s blood sugar during your initial visit and during subsequent visits. Over time, you will get to know your child and the best way to respond when they are not eating due to illness or stress. You will also learn the signs that indicate you should take your child for emergency treatment.

If you child is sick, it is a good idea to feed them more frequently and to contact your metabolic doctor.
When you first notice that your child is not eating, you should offer him/her a favorite high sugar food, such as fruit juice. It is best to avoid Pedialyte and other rehydration drinks which do not have adequate amounts of sugar to help a child with VLCADD recover once their blood sugar starts to drop.

If a child continues to not eat, is vomiting and/or if they show signs such as low energy (lethargy) or irritability, take them to an emergency room for evaluation and treatment. Take your child’s emergency protocol letter with you and present it on arrival.

A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. If you are looking for a metabolic clinic for treatment in the United States, you can search for the clinic or clinics in your state.
A metabolic dietician can be found through the Genetic Metabolic Dieticians International webpage.
A genetic professional can also be found on the Genetic Testing Registry Homepage.

Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) is screened for in newborn screening programs. A child with an abnormal newborn screen for VLCADD or children and adults who show symptoms of VLCADD will have specialized tests performed. These may include blood and urine testing. Genetic testing for changes (mutations) in the ACADVL gene can confirm the diagnosis.
Tests on a sample of blood, skin cells, muscle, and/or liver tissue can determine how much of the protein that breaks down very long chain fatty acids is still active, which predicts how severe the symptoms will be.
The best person to figure out whether an individual has VLCADD is a doctor who specializes in metabolic disorders, such as a medical geneticist. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. If you are looking for a metabolic clinic for treatment in the United States, you can search for the clinic or clinics in your state.

Your metabolic geneticist will provide the letter. The letter should be reviewed and updated regularly. Each time the letter is updated, make sure to any destroy previous copies of the letter and replace them with the new version. Speak with your metabolic physician to develop an emergency protocol letter.

Current clinical research for Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) can be found at

If your child was diagnosed through newborn screening, the newborn screening program in your state will refer you to a specialist in Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD).

Other lists of specialists treating VLCADD can be found at these websites:

The exact incidence of Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) is not known. It is estimated to affect 1 in 40,000 to 120,000 people.

The best person to figure out whether an individual has VLCADD is a doctor who specializes in metabolic disorders, such as a metabolic geneticist. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website.

Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) does not directly cause learning problems or disability. However, if a person with VLCADD experiences very low blood sugar levels, this may cause damage to the brain. This might result in temporary or permanent delays in development. If you have concerns about your child’s development, please consult with your primary care provider or metabolic physician.

Children with Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) may not have any symptoms of the condition at first. Their first symptoms may not occur until they begin to sleep through the night without food. They may then develop dangerously low blood sugar (hypoglycemia) when they begin to sleep for longer periods without eating. During this time the body will attempt to burn its stored fats for energy, but because of the defect in the protein needed for burning long chain fats, the child will be unable to make enough energy. This may result in an unexplained coma or death which could be classified as SIDS or near-SIDS.
Before newborn screening for disorders of fatty acid metabolism, it was estimated that between 3-6% of SIDS deaths were caused by these diseases. Autopsy or follow-up testing should include testing for VLCADD.

For more information about SIDS, this website may be helpful: http://www.cdc.gov/sids/.

If you are being treated for very long-chain acyl-coa dehydrogenase deficiency (VLCADD), your doctor may recommend you take carnitine. Although there is a version of this supplement that you can buy at health food supplement stores, the carnitine there has not undergone the amount of rigorous testing and regulations that the prescription versions (Carnitor® and levocarnitine) have. In fact, some supplements bought from the health food store are not manufactured in the United States. Since you do not know for sure the quality of the product, it is recommended you discuss use of this supplement from the health food store with your doctor. The safest alternative is a medication that has been approved and is regulated by the Food and Drug Administration to treat VLCADD.

With proper treatment, a child with Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) can grow up to be healthy. Newborn screening and early diagnosis are important to preventing complications. It is important that the parents and caregivers are aware of the risks of low blood sugar when a child goes a long time without eating or has increased calorie needs. As the child grows up, he or she will begin to recognize when he/she is at risk for getting low blood sugar and will be able to take more control of their treatment and be able to ask to get treatment with intravenous (IV) sugar. Speak with your child’s pediatrician and metabolic physician if you have concerns about their growth or development.

Other names for Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency include

The primary support group for Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) is the Fatty Acid Oxidation Disorder Family Support Group. This support group offers support for families dealing with any of the larger category of genetic disorders that affect the body’s ability to burn fat for energy.

Fatty acid oxidation disorders are part of a larger group of disorders called "mitochondrial diseases." And so support groups for people with mitochondrial diseases may also be of help. The largest of these groups in the US is the United Mitochondrial Disease Foundation (UMDF)

Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) is separated into three different groups depending on severity. They are all caused by mutations (changes) in the same gene (ACADVL).

People with Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) may need to avoid the following situations: