Ethylmalonic Encephalopathy

Gene : ETHE1

What is Ethylmalonic Encephalopathy?

Ethylmalonic encephalopathy (EE) is a devastating infantile metabolic disorder that affects multiple body systems including the brain, gastrointestinal tract and blood vessels. It is caused by a defective enzyme that plays a part in production of energy for the body. Symptoms may include developmental delay, psychomotor regression, low muscle tone, abnormal movements of the arms and legs, seizures, skin rash, blue discoloration of the hands and feet and chronic diarrhea. Symptoms can be apparent at birth or appear within the first few months of life. Functions of the nervous system progressively worsen and most affected individuals only survive to early childhood. There is no cure for EE; however medical surveillance and care may help to improve some symptoms and overall condition of life. EE is caused by pathogenic variants in the ETHE1 gene.

How is ethlymalonic encephalopathy inherited?

EE is inherited in an autosomal recessive manner. This type of inheritance requires the presence of two copies of a pathogenic variant in the gene for a person to have the genetic disease. Both parents must be carriers of a pathogenic variant in the gene in order to be at risk to have an affected child. The child must inherit a pathogenic variant from each carrier parent in order to be affected. There is a 1 in 4 chance that a baby will inherit two mutated copies of the gene and be affected when both parents are carriers.

What does it mean to be a carrier?

There are generally no signs or symptoms associated with being a carrier for EE. However, the risk to have a child affected with EE is increased. Testing of reproductive partners is recommended for carriers of EE.

How common is ethylmalonic encephalopathy?

EE is very rare. It has been reported most commonly in Mediterranean and Arab population.

Family References and Resources
Clinician References
What is Analyzed?
  • Full gene sequencing
Affected Systems





GI Tract


Carrier Rates
Detection Rate
Carrier Frequency
General Population 99% 1 in 500

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