What is Acadm deficiency?

What is Acadm deficiency?

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an inherited disorder that prevents your body from breaking down certain fats and converting them into energy. As a result, the level of sugar in your blood can drop dangerously low (hypoglycemia).

Can MCADD be cured?

There’s no specific treatment for MCADD. A specialist care team will give you advice about how to look after your child and support them as they get older.

How can MCAD be clinically confirmed?

Diagnosis/testing. The diagnosis of MCAD deficiency is established in a proband with confirmatory biochemical testing results and biallelic pathogenic variants in ACADM identified on molecular genetic testing.

How is Vlcad 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.

Who gets Vlcad?


Medical Terms Other Names Learn More: HPO ID
Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256
Metabolic acidosis 0001942
Muscle spasm 0003394
Obesity Having too much body fat 0001513

What causes 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.

What do you eat with VLCAD?

Children with VLCAD should have a starchy snack (such as bread, cereal, and rice) before bed and another during the night. They need another snack first thing in the morning. Raw cornstarch mixed with water, milk, or other drink is a good source of long- lasting energy.

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 VLCAD curable?

If treated early, babies with very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) can have healthy growth and development. Treatments need to continue throughout life. If VLCAD is not treated, babies usually die young. It is important to screen for and treat VLCAD.