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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
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Overview

Ethylmalonic encephalopathy is an inherited disorder that is usually evident at birth and affects several body systems, particularly the nervous system. Neurologic signs and symptoms include progressively delayed development, weak muscle tone (hypotonia), seizures, and abnormal movements. The body's network of blood vessels is also affected. Children with this disorder may experience rashes of tiny red spots (petechiae) caused by bleeding under the skin and blue discoloration in the hands and feet due to reduced oxygen in the blood (acrocyanosis). Chronic diarrhea is another common feature. Ethylmalonic encephalopathy is inherited in an autosomal recessive pattern and caused by mutations in the ETHE1 gene.[1]
Last updated: 8/26/2011

References

  1. Ethylmalonic encephalopathy. Genetics Home Reference. August 2006; http://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy. Accessed 8/26/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Ethylmalonic encephalopathy. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ethylmalonic encephalopathy. Click on the link to view a sample search on this topic.
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.