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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Medium-chain acyl-coenzyme A dehydrogenase deficiency


Other Names for this Disease
  • ACADM deficiency
  • Acyl-CoA dehydrogenase medium chain deficiency of
  • MCAD deficiency
  • MCADD
  • MCADH deficiency
More Names
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Symptoms


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What are the signs and symptoms of medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency?

The initial signs and symptoms of medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency typically 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 MCAD 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.[1]

The signs and symptoms of MCAD deficiency can be triggered by periods of fasting or illnesses such as viral infections, particularly when eating is reduced.[1] 

Last updated: 2/4/2011

References
  1. Medium-chain acyl-coenzyme A dehydrogenase deficiency. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition=mediumchainacylcoenzymeadehydrogenasedeficiency. Accessed 2/4/2011.