MCAD Deficiency is an inherited disorder caused by defects in Fatty Acid Breakdown. It is caused by a lack of medium-chain acyl-CoA dehydrogenase (MCAD), which is involved in the metabolism of medium-chain fatty acids.
Acyl-CoA Dehydrogenase catalyzes the first step of beta-oxidation, so a defect in its activity leads to the accumulation of fatty acyl-carnitines and other upstream intermediates.
Due to an inability to use fats for energy, patients develop hypoketotic hypoglycemia during fasting, and may also present with lethargy, vomiting, seizures, coma, and even death. The accumulation of fatty acyl-carnitines and ot her intermediates can lead to hepatomegaly and liver dysfunction, and hyperammonemia may be seen.
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