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Ethylmalonic encephalopathy

(ETH-uhl-muh-LAHN-IK • in-sef-uh-LAH-puh-thee)

General Condition Information

Other Names

  • EE
  • EME
  • Encephalopathy, Petechiae, and Ethylmalonic Aciduria
  • EPEMA Syndrome

Condition Type

Birth Prevalence

  • It is unknown how many babies are born with this rare condition each year in the United States.
  • Visit GeneReviews to learn more about how often this condition occurs.

Screening Finding

High C4 acylcarnitine levels with or without elevated ethylmalonic acid

What is ethylmalonic encephalopathy

Ethylmalonic encephalopathy is an inherited (genetic) condition that prevents the body from breaking down a substance called sulfide. Sulfide is important for a number of functions in the body.

Ethylmalonic encephalopathy is caused when the enzyme ETHE1 does not work correctly. The ETHE1 enzyme breaks down sulfide in the mitochondria, the part of your cells that creates energy.

Babies who do not have enough ETHE1 enzyme cannot break down sulfide. When sulfide builds up, it becomes toxic, gets in the way of making energy, and damages organs throughout the body.

Without treatment, high levels of sulfide can damage the brain, muscles, blood vessels, and intestines. This damage leads to the signs and symptoms of the condition.

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

It is important to talk to your health care provider about which treatment(s) are best for your baby. While there are no treatment options available that can stop the progression of Ethylmalonic encephalopathy, there are treatments to help with some of the symptoms.

Treatments may include the following:

  • Muscle relaxants
  • Physical therapy
  • Medications to help seizures
  • Antibiotics
  • Antioxidants
  • Supplements
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