Long chain/very long chain acyl CoA dehydrogenase deficiency Save

Long chain/very long chain acyl-CoA dehydrogenase deficiency (LCAD/VLCAD) is a rare genetic disorder that affects the body's ability to metabolize fats. It is caused by mutations in the ACADVL gene, which provides instructions to make an enzyme called acyl-CoA dehydrogenase.

LCAD/VLCAD can affect people of all ages, but symptoms usually appear in infancy or early childhood. The symptoms can vary from mild to severe, and may include low blood sugar, muscle weakness, poor feeding, vomiting, and developmental delays. In severe cases, LCAD/VLCAD can lead to life-threatening complications such as liver failure, heart abnormalities, and sudden death.

The treatment of LCAD/VLCAD mainly involves managing the symptoms and preventing complications. This may include:

Dietary changes: People with LCAD/VLCAD may need to follow a special low-fat, high-carbohydrate diet to prevent the accumulation of harmful fatty acids in the body.

Supplemental nutrition: Some people with LCAD/VLCAD may need to take supplements to ensure that they are getting enough nutrients, such as carnitine, which helps the body process fats.

Avoiding fasting: Fasting, or going without food for extended periods, can trigger the symptoms of LCAD/VLCAD. People with this disorder may need to eat frequent small meals throughout the day to prevent low blood sugar and other complications.

Medications: Some medications, such as riboflavin and coenzyme Q10, may be prescribed to help manage the symptoms of LCAD/VLCAD.

Regular medical monitoring: People with LCAD/VLCAD may need regular medical monitoring to check for complications such as liver damage or heart abnormalities.

In some cases, liver transplantation may be considered for people with severe liver disease caused by LCAD/VLCAD. However, this is a complex procedure with significant risks, and it is only recommended in specific situations.

In conclusion, while there is no cure for LCAD/VLCAD, early diagnosis and appropriate management can help prevent complications and improve the quality of life for people with this disorder. Regular medical monitoring and close collaboration with healthcare providers are essential for managing the symptoms and preventing complications.