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MCADD is a disorder inherited genetically through an autosomal recessive trait, and it is caused by mutations in the medium-chain acyl- CoA dehydrogenase (ACADM) gene. The ACADM gene is located on chromosome 1p31. There are over 90 different ACADM gene mutations known so far, most of which are missense mutations.

   The disorder can lead to symptoms such as a loss in appetite as well as vomiting and diarrhea. This can result in accumulated concentrations of acylcarnitine, which can be potentially toxic. People who are affected and not diagnosed  are at a high risk of dying or experiencing permanent neurological damage during their first metabolic crisis. To prevent such events, immediate care should follow catabolic stress and fasting should be averted. Individuals living with MCADD are asymptomatic up until there is an increased demand for energy followed by a prolonged time of fasting. Newborn screening is now widely implemented through the use of liquid chromatography-tandem mass spectrometry.

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