Living with Ethylmalonic encephalopathy
An inherited condition that mainly affects the nervous system and blood vessels, starting at birth or in early infancy.
Understanding Ethylmalonic encephalopathy
Signs are seen at birth or in the first months of life. Nervous system problems include delayed development, loss of skills already gained, weak muscle tone, seizures, and abnormal movements. Blood vessels are also affected, causing tiny red spots from bleeding under the skin and blue hands and feet. Ongoing diarrhea is common. Nervous system problems usually get worse over time.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Delayed development and loss of skills
- Weak muscle tone (hypotonia)
- Tiny red spots on the skin (petechiae)
- Blue hands and feet (acrocyanosis)
- Ongoing diarrhea
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in ETHE1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with United Mitochondrial Disease Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ETHE1 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent. GARD also lists mitochondrial inheritance.
Also known as: ee; encephalopathy, petechiae, and ethylmalonic aciduria; epema syndrome; syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ethylmalonic encephalopathy.
Explore research for Ethylmalonic encephalopathy
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