Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency is the most common inherited disorder of fatty acid oxidation. The body normally uses fat as an energy source during fasting or when carbohydrates are depleted. In MCAD deficiency, the enzyme needed to break down medium-chain fatty acids is deficient, preventing the body from properly converting fat to energy.

MCAD deficiency is particularly dangerous during periods of fasting or illness when the body needs to rely on fat for energy. When carbohydrate stores run out and fat cannot be properly utilized, blood sugar drops (hypoglycemia) and toxic compounds accumulate. This can lead to metabolic crisis with potentially fatal consequences, especially in infancy and early childhood.

Many individuals with MCAD deficiency are asymptomatic until a metabolic crisis is triggered by an infection, prolonged fasting, or vomiting. Symptoms during a crisis include lethargy, vomiting, low blood sugar, and in severe cases, seizures, coma, or sudden death. Prior to newborn screening programs, MCAD deficiency was a significant cause of sudden infant death and Reye-like syndrome.

MCAD deficiency is caused by mutations in the ACADM gene and is inherited in an autosomal recessive pattern. One specific mutation (K329E or c.985A>G) accounts for approximately 80% of cases in people of Northern European ancestry. With newborn screening and proper management (avoiding fasting and treating illnesses promptly), individuals with MCAD deficiency can lead healthy lives.

NutraHacker examines the following gene related to MCAD Deficiency:

• ACADM

For more information about your own genetic profile as related to MCAD Deficiency, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.