About Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)

What is Very Long Chain Acyl Co Dehydrogenase Deficiency (LCAD)?

Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD) is an inherited disorder that affects the body's ability to break down certain fats. It is caused by a deficiency of the enzyme very long chain acyl-CoA dehydrogenase (VLCAD). This enzyme is responsible for breaking down long-chain fatty acids, which are found in certain foods and are important for energy production. People with LCAD may experience episodes of low blood sugar, muscle weakness, and fatigue. Treatment typically involves dietary changes and supplementation with medium-chain fatty acids.

What are the symptoms of Very Long Chain Acyl Co Dehydrogenase Deficiency (LCAD)?

The symptoms of Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD) vary from person to person, but may include:

- Poor feeding
- Vomiting
- Lethargy
- Weakness
- Hypoglycemia
- Seizures
- Cardiomyopathy
- Liver dysfunction
- Elevated levels of very long chain fatty acids in the blood
- Elevated levels of acylcarnitines in the blood
- Developmental delay
- Intellectual disability
- Movement disorders
- Autonomic dysfunction

What are the causes of Very Long Chain Acyl Co Dehydrogenase Deficiency (LCAD)?

Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD) is caused by mutations in the ACADVL gene. This gene provides instructions for making an enzyme called very long-chain acyl-CoA dehydrogenase (VLCAD). This enzyme is involved in breaking down certain fats (called very long-chain fatty acids) into energy. Mutations in the ACADVL gene reduce or eliminate the activity of VLCAD, leading to a buildup of very long-chain fatty acids in the body. This buildup can cause a variety of symptoms, including heart problems, liver problems, and muscle weakness.

What are the treatments for Very Long Chain Acyl Co Dehydrogenase Deficiency (LCAD)?

1. Dietary management: A low-fat diet is recommended to reduce the amount of long-chain fatty acids in the diet.

2. Supplementation: Supplementation with medium-chain fatty acids (MCFAs) can help to reduce the amount of long-chain fatty acids in the body.

3. Enzyme replacement therapy: Enzyme replacement therapy (ERT) is a treatment option for LCAD deficiency. ERT involves the administration of a recombinant form of the enzyme, which helps to break down long-chain fatty acids.

4. Gene therapy: Gene therapy is a potential treatment option for LCAD deficiency. This involves the introduction of a healthy copy of the gene responsible for producing the enzyme into the patient’s cells.

5. Liver transplant: In some cases, a liver transplant may be recommended as a

What are the risk factors for Very Long Chain Acyl Co Dehydrogenase Deficiency (LCAD)?

1. Family history of VLCAD deficiency
2. Genetic mutations in the ACADVL gene
3. Premature birth
4. Low birth weight
5. Exposure to certain medications or toxins
6. Low levels of carnitine in the blood
7. Low levels of VLCAD enzyme activity in the blood
8. Abnormal liver function tests

Is there a cure/medications for Very Long Chain Acyl Co Dehydrogenase Deficiency (LCAD)?

Yes, there is a medication available for Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD). The medication is called triheptanoin, and it is used to replace the missing enzyme in the body. It is available in the United States and Europe. Additionally, dietary modifications and supplements may be recommended to help manage the symptoms of LCAD.