National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Ethylmalonic encephalopathy


Other Names:
Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria; Encephalopathy, ethylmalonic; Encephalopathy, petechiae, and ethylmalonic aciduria; Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria; Encephalopathy, ethylmalonic; Encephalopathy, petechiae, and ethylmalonic aciduria; EPEMA syndrome; EME See More
Categories:
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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 25 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Encephalopathy 0001298
Ethylmalonic aciduria 0003219
30%-79% of people have these symptoms
Abnormal basal ganglia MRI signal intensity 0012751
Abnormal pyramidal sign 0007256
Abnormality of extrapyramidal motor function 0002071
Acrocyanosis
Persistent blue color of hands, feet, or parts of face
0001063
Ataxia 0001251
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood
[ more ] 		0002376
Diarrhea
Watery stool
0002014
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Lactic acidosis
Increased lactate in body
0003128
Neurodevelopmental delay 0012758
Petechiae 0000967
Retinal vascular tortuosity 0012841
Seizure 0001250
5%-29% of people have these symptoms
Abnormal brainstem MRI signal intensity 0012747
Percent of people who have these symptoms is not available through HPO
Abnormal retinal vascular morphology
Abnormality of retina blood vessels
0008046
Autosomal recessive inheritance 0000007
Chronic diarrhea 0002028
Cytochrome C oxidase-negative muscle fibers 0003688
Focal T2 hyperintense basal ganglia lesion 0007183
Global developmental delay 0001263
Muscular hypotonia
Low or weak muscle tone
0001252
Showing of 25 |
Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • 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.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
MADD and SCADD should be taken into account in the differential diagnosis of EE.
Visit the Orphanet disease page for more information.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

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