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Ethylmalonic encephalopathy [Supplementary Concept]

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

Date introduced: August 25, 2010

MeSH Unique ID: C535737

Heading Mapped to:

Entry Terms:

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

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