How is VLCAD deficiency treated?

How is VLCAD deficiency treated?

Treatment. Management of VLCAD deficiency is focused primarily on preventing acute episodes of low blood sugar (hypoglycemia). This process includes avoiding fasting and using a very low-fat, high-carbohydrate diet, with frequent feeding.

Is VLCAD serious?

If untreated, VLCAD can cause brain damage and even death. However, if the condition is detected early in life and proper treatment is begun, individuals affected with VLCAD often can lead healthy lives.

How common is VLCAD deficiency?

VLCAD deficiency is estimated to affect 1 in 40,000 to 120,000 people.

Does VLCAD go away?

Thankfully, the VLCAD deficiency life expectancy rate increases with age. Those who make it through infancy to later childhood can still experience the same life-threatening problems they did in infancy, but the frequency of these issues typically begins to decrease with time.

What happens with VLCAD?

VLCAD happens when an enzyme called “very long chain acyl-CoA dehydrogenase” is missing or not working. This enzyme breaks down certain fats from the food we eat into energy. It also breaks down fat already stored in the body.

Is VLCAD a mitochondrial disease?

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is the most common defect of mitochondrial long-chain fatty acid β-oxidation. Patients present with heterogeneous clinical phenotypes affecting heart, liver and skeletal muscle predominantly.

How many children have VLCAD?

HOW MANY PEOPLE HAVE VLCADD? Originally thought to be rare, newborn screening has established that 1 in 30,000 to 100,000 people has VLCADD. Most people diagnosed with VLCADD through newborn screening do not have symptoms of VLCAD and are thought to have the childhood and adult types of VLCADD.

Is VLCAD genetic?

VLCAD deficiency is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell . The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers .

How is VLCAD inherited?

Inheritance. VLCAD deficiency is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell . The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers .

What disease does Cheyennes baby have?

After some additional testing, Ryder was diagnosed with Very Long-chain Acyl-CoA Dehydrogenase-Deficiency. VLCAD is a genetic metabolic disorder. On a basic level, it means that Ryder’s body can’t properly convert fats into energy.

How do you test for VLCAD?

This testing may include specialized tests performed on a sample of blood, urine, skin cells , muscle, and/or liver tissue . Genetic testing for changes ( mutations ) in the ACADVL gene can confirm the diagnosis. GeneReview’s Web site offers more specific information about the diagnosis of VLCAD deficiency.