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Diseases

Genetic and Rare Diseases Information Center (GARD)

Ethylmalonic encephalopathy


Other Names for this Disease
  • Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
  • Encephalopathy, ethylmalonic
  • Encephalopathy, petechiae, and ethylmalonic aciduria
  • EPEMA syndrome
  • EME
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

On this page

Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Newborn Screening

  • An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics.
  • The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.
Other Names for this Disease
  • Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
  • Encephalopathy, ethylmalonic
  • Encephalopathy, petechiae, and ethylmalonic aciduria
  • EPEMA syndrome
  • EME
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.