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