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Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. People with medium-chain acyl-coenzyme A dehydrogenase deficiency have inadequate levels of an enzyme required for the step that metabolizes a group of fats called medium-chain fatty acids.
Typically, initial signs and symptoms of this disorder occur during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood sugar (hypoglycemia). In rare cases, the first episode of problems related to medium-chain acyl-coenzyme A dehydrogenase deficiency occurs during adulthood. People with this disorder are also at risk of serious complications such as seizures, breathing difficulties, liver problems, brain damage, coma, and sudden unexpected death.
Signs and symptoms of medium chain acyl-coenzyme A dehydrogenase deficiency can be triggered by periods of fasting or illnesses such as viral infections, particularly when eating is reduced. These signs and symptoms are sometimes mistaken for Reye syndrome, a severe disorder that develops in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.
In the United States, the estimated incidence of medium-chain acyl-coenzyme A dehydrogenase deficiency is 1 in 17,000 people. The condition is more common among individuals of northern European ancestry.
Mutations in the ACADM gene cause medium-chain acyl-coenzyme A dehydrogenase deficiency.
Mutations in the ACADM gene lead to inadequate levels of an enzyme called medium-chain acyl-coenzyme A dehydrogenase. Without sufficient amounts of this enzyme, medium-chain fatty acids from food and fats stored in the body are not metabolized properly. As a result, these fats are not converted to energy, which can lead to characteristic signs and symptoms of this disorder such as lethargy and low blood sugar. Medium-chain fatty acids or partially metabolized fatty acids may accumulate in tissues and can damage the liver and brain, causing serious complications.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
'''Medium chain acyl dehydrogenase Deficiency''' is one of a group of conditions that is associated with inborn error of metabolism in fatty acid oxidation. It is due to defects in the enzyme complex known as ''medium chain acyl dehydrogenase'' (MCAD) and reduced activity of this complex. It is recognised as one of the causes of sudden infant death syndrome (SIDS, "cot death" or "crib death"). It should be noted that, as MCAD deficiency is considered sufficient explanation for sudden death, this condition is better described as a mimic rather than a cause of SIDS.