How should a patient with a medium chain acyl-CoA dehydrogenase deficiency be treated?
How should a patient with a medium chain acyl-CoA dehydrogenase deficiency be treated?
Strategies may include:
- Taking simple carbohydrates, such as sugar (glucose) tablets or sweetened, nondiet beverages.
- Seeking emergency medical care if unable to eat or for diarrhea or vomiting. An intravenous (IV) line for extra glucose and additional treatment may be needed.
What is Vlcad deficiency?
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).
Is Acyl-CoA a fatty acid?
Fatty acids are activated by reaction with CoA to form fatty acyl CoA. The reaction normally occurs in the endoplasmic reticulum or the outer mitochondrial membrane.
Where is Acyl-CoA dehydrogenase found?
the mitochondria
Acyl-CoA dehydrogenases (ACADs), flavoproteins found in the mitochondria, are involved in β-oxidation of fatty acids.
What are two common treatments for Vlcad deficiency?
Cause. Listen. VLCAD deficiency is caused by changes ( mutations ) in the ACADVL gene .
Can you live a normal life with VLCAD?
Along with those symptomatic infants who make it to adulthood, some adults with VLCAD deficiency will have a milder form of the disorder that is only diagnosed later in life. When this occurs, the adults are typically less likely to experience these life-threatening issues and are able to live mostly normal lives.
Is MCAD hereditary?
MCAD deficiency is inherited from both parents. Though both parents are carriers — each one has an abnormal gene — they typically don’t have symptoms of the condition. The affected child inherits two copies of the abnormal gene — one from each parent.
How does medium chain acyl CoA dehydrogenase deficiency ( MCAD )?
Visit GeneReviews to learn more about how often this condition occurs. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an inherited (genetic) condition that prevents the body from breaking down certain fats and turning them into energy. MCAD is an enzyme that processes a type of fat called medium-chain fatty acids.
What causes low levels of medium chain dehydrogenase?
Mutations in this gene lead to low levels of the enzyme, which means that medium-chain fatty acids are not broken down properly. They cannot be converted to energy, leading to the symptoms of MCADD. [1] Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is inherited in an autosomal recessive manner. [1]
What are mutations in ACADM gene cause MCAD deficiency?
Mutations in the ACADM gene cause MCAD deficiency. This gene provides instructions for making an enzyme called medium-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called medium-chain fatty acids.
What are the symptoms of medium chain acyl coenzyme A deficiency?
The initial signs and symptoms of medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) typically occur during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood sugar (hypoglycemia).
