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Medium-chain acyl-coenzyme A dehydrogenase deficiency
 
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Medium-chain acyl-coenzyme A dehydrogenase deficiency

Reviewed February 2007

What is medium-chain acyl-coenzyme A dehydrogenase deficiency?

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.

How common is medium-chain acyl-coenzyme A dehydrogenase deficiency?

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.

What genes are related to medium-chain acyl-coenzyme A dehydrogenase deficiency?

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.

Read more about the ACADM gene.

How do people inherit medium-chain acyl-coenzyme A dehydrogenase deficiency?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about treatment for medium-chain acyl-coenzyme A dehydrogenase deficiency?

These resources address the management of medium-chain acyl-coenzyme A dehydrogenase deficiency and may include treatment providers.

You might also find information on treatment of medium-chain acyl-coenzyme A dehydrogenase deficiency in Educational resources and Patient support.

Where can I find additional information about medium-chain acyl-coenzyme A dehydrogenase deficiency?

You may find the following resources about medium-chain acyl-coenzyme A dehydrogenase deficiency helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for medium-chain acyl-coenzyme A dehydrogenase deficiency?

  • ACADM deficiency
  • MCADD
  • MCAD deficiency
  • MCADH deficiency
  • Medium chain acyl-CoA dehydrogenase deficiency

What if I still have specific questions about medium-chain acyl-coenzyme A dehydrogenase deficiency?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding medium-chain acyl-coenzyme A dehydrogenase deficiency?

acids ; autosomal ; autosomal recessive ; cell ; CoA ; coenzyme A ; coma ; complication ; deficiency ; dehydrogenase ; enzyme ; fasting ; fatty acids ; gene ; hypoglycemia ; incidence ; infection ; lethargy ; mutation ; newborn screening ; oxidation ; recessive ; screening ; seizure ; sign ; symptom ; syndrome ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (7 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: February 2007
Published: January 23, 2009