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

Symptoms

Are there different forms of Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?

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).

  1. Severe early-onset cardiac and multi-organ failure VLCADD. This is the most severe form in which the body is not able to break down any very long chain fatty acids. A baby with this form of VLCADD usually has symptoms before it is a few months old.
  2. Hepatic or hypoketotic hypoglycemic VLCADD. This is an intermediate form of VLCADD in which the body is able to break down some very long chain fatty acids. Symptoms usually occur in infancy or early childhood.
  3. Later-onset episodic myopathic VLCADD. This is the mildest and most common type of VLCADD. Symptoms may not appear until adulthood and some people with this form of the condition may never have symptoms.

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.

References
Show More Content Like This

More Symptoms Content

What are the symptoms of severe early-onset cardiac and multi-organ form of Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?

What are the symptoms of the hepatic or hypoketotic hypoglycemic form of Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?

What are the symptoms of the Later-onset episodic myopathic form of Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?

Could Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) be a cause of Sudden Infant Death Syndrome (SIDS) or near-SIDS or rescued-SIDS?

What are some of the common situations in which a child with Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) may get symptoms?

Do people with Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) have mental disability or learning problems?

What are the symptoms of severe early-onset cardiac and multi-organ form of Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?

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.

References
What are the symptoms of the hepatic or hypoketotic hypoglycemic form of Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?

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.

References
What are the symptoms of the Later-onset episodic myopathic form of Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD)?

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.

References
Could Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) be a cause of Sudden Infant Death Syndrome (SIDS) or near-SIDS or rescued-SIDS?

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/.

References
What are some of the common situations in which a child with Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) may get symptoms?

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:

  • Infection
  • Stress
  • Weaning from nighttime feeding (such as when a baby starts to sleep through the night without eating)
  • Preparing for, during or after surgery
  • Dehydration
  • Fever
  • Gastrointestinal illness, such as vomiting or diarrhea
  • Strenuous Exercise

Speak with your metabolic physician to discuss which specific triggers you or your child are at risk for, and if you have any questions about other possible triggers.

References
Do people with Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCADD) have mental disability or learning problems?

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.

References

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me