Ethylmalonic encephalopathy

An autosomal recessive severe metabolic disorder of infancy affecting the brain, gastrointestinal tract, and peripheral vessels. The disorder is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae (PURPURA), orthostatic acrocyanosis, and chronic diarrhea. Brain MRI shows necrotic lesions in deep gray matter structures. Death usually occurs in the first decade of life. Mutations in the ETHE1 gene have been identified. OMIM: 602473

Also Known As:

Encephalopathy, Petechiae, and Ethylmalonic Aciduria; Encephalopathy, ethylmalonic; Epema Syndrome; Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria

Hemic and Lymphatic Diseases: 6
- Hematologic Diseases: 3366
  - Blood Coagulation Disorders: 167
    - Purpura: 3221
      - Ethylmalonic encephalopathy: 66
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Hemorrhage: 140190
    - Purpura: 3221
      - Ethylmalonic encephalopathy: 66
- Signs and Symptoms
  - Skin Manifestations: 753
    - Purpura: 3221
      - Ethylmalonic encephalopathy: 66
Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Ethylmalonic encephalopathy: 66
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Ethylmalonic encephalopathy: 66
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Ethylmalonic encephalopathy: 66
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Ethylmalonic encephalopathy: 66

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Disease

Drug/Important Bio-Agent (IBA)