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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
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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 deficiency (MCADD) 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 MCADD occurs during adulthood. The signs and symptoms of MCADD can be triggered by periods of fasting, or during illnesses such as viral infections, particularly when eating is reduced. People with MCADD are also at risk of serious complications such as seizures, breathing difficulties, liver problems, brain damage, coma, and sudden, unexpected death.[1]
Last updated: 7/7/2014

The Human Phenotype Ontology provides the following list of signs and symptoms for Medium-chain acyl-coenzyme A dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Autosomal recessive inheritance -
Cerebral edema -
Coma -
Decreased plasma carnitine -
Elevated hepatic transaminases -
Hepatic steatosis -
Hepatomegaly -
Hyperglycinuria -
Hypoglycemia -
Lethargy -
Medium chain dicarboxylic aciduria -
Muscular hypotonia -
Seizures -
Vomiting -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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.


Other Names for this Disease
  • ACADM deficiency
  • Acyl-CoA dehydrogenase medium chain deficiency of
  • MCAD deficiency
  • MCADD
  • MCADH deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.