Acyl-CoA Dehydrogenase (Very Long Chain)

Definition

Definition of Acyl-CoA Dehydrogenase (Very Long Chain)
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).

Genetic: Mutations in the ACADVL gene lead to inadequate levels of an enzyme called very long-chain acyl-coenzyme A (CoA) dehydrogenase. Without this enzyme, very long-chain fatty acids from food and fats stored in the body cannot be degraded and processed. As a result, these fatty acids are not converted into energy, which can lead to characteristic signs and symptoms of this disorder, such as lethargy and hypoglycemia. Levels of very long-chain fatty acids or partially degraded fatty acids may build up in tissues and can damage the heart, liver, and muscles, causing more serious complications.

Symptoms

Symptoms of Acyl-CoA Dehydrogenase (Very Long Chain)
Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglycemia), lack of energy (lethargy), and muscle weakness. Affected individuals are also at risk for serious complications such as liver abnormalities and life-threatening heart problems. When symptoms begin in adolescence or adulthood, they tend to be milder and usually do not involve the heart.

Causes

Causes of Acyl-CoA Dehydrogenase (Very Long Chain)
VLCADD occurs when an enzyme, called "very long chain acyl-CoA dehydrogenase" (VLCAD) is either missing or not working properly. This enzyme's job is to break down certain fats from the food we eat into energy. It also breaks down fat already stored in the body.

Diagnosis

Diagnosis of Acyl-CoA Dehydrogenase (Very Long Chain)
Diagnosis relies on (1) comprehensive acylcarnitine analysis by tandem mass spectrometry of plasma or a dried blood spot specimen collected during a period of metabolic stress (especially fasting or reduced caloric intake during infectious illness or procedures), followed by (2) molecular genetic testing of ACADVL, the only gene in which mutations are known to cause VLCAD deficiency. Additional diagnostic tests are functional analysis of fatty acid oxidation in cultured fibroblasts and measurement of VLCAD enzyme activity in fibroblasts or lymphocytes.

Treatment

Treatment of Acyl-CoA Dehydrogenase (Very Long Chain)
If a metabolic crisis is not treated, a child with VLCADD can develop: breathing problems, seizures, coma, sometimes leading to death.

Prognosis

Prognosis of Acyl-CoA Dehydrogenase (Very Long Chain)
Consult with your doctor.

Prevention

Prevention of Acyl-CoA Dehydrogenase (Very Long Chain)
Consult with your doctor.