How to Treat Medium-chain Acyl-coa Dehydrogenase Deficiency (mcadd)?

  • September 30, 2023
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How to Treat Medium-chain Acyl-coa Dehydrogenase Deficiency (mcadd)?

What is Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCADD)?

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare genetic disorder that affects the body's ability to break down certain fats for energy. This condition is characterized by a deficiency of an enzyme called medium-chain acyl-CoA dehydrogenase, which is crucial for the metabolism of medium-chain fatty acids. MCADD is an autosomal recessive disorder, meaning that an individual needs to inherit two defective copies of the responsible gene – one from each parent – to manifest the condition.

Why Does MCADD Occur?

MCADD is caused by mutations in the ACADM gene, which provides instructions for making the medium-chain acyl-CoA dehydrogenase enzyme. When both parents carry a single copy of the mutated gene, there is a 25% chance that their child will inherit two copies and develop MCADD. The condition leads to the accumulation of medium-chain fatty acids, which can be toxic, especially during times of fasting or illness when the body relies more on fat metabolism for energy.