Ethylmalonic Encephalopathy (EME)



Ethylmalonic encephalopathy (EME) is an inherited condition that affects many systems of the body. Usually, signs of EME are evident at birth or begin in the first few months of life. Signs of EME include progressively delayed development, cardiovascular problems, weak muscle tone, seizures, abnormal movements, rashes of tiny red spots, blue discoloration in hands and feet, and chronic diarrhea. Early detection and proper treatment may help delay some of the serious health outcomes associated with the condition.

Condition Type:



Ethylmalonic encephalopathy (EME) is a very rare condition that has only been documented in 30 individuals worldwide. EME appears to occur more often in Arab and Mediterranean populations.

More Information for Parents:
Also known as:
  • EME
  • Encephalopathy, petechiae, and ethylmalonic aciduria
  • EPEMA syndrome
  • EE
  • Ethylmalonic acidemia

Core Conditions