MeSH Browser

MeSH Supplementary: Ethylmalonic encephalopathy
Unique ID: C535737
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535737
Entry Term(s): Encephalopathy, Petechiae, and Ethylmalonic Aciduria; Encephalopathy, ethylmalonic; Epema Syndrome; Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
Registry Number: 0
Heading Mapped to: *Purpura; *Brain Diseases, Metabolic, Inborn
Frequency: 42
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/09/26

Ethylmalonic encephalopathy MeSH Supplementary Concept Data 2024