1. Biology Dictionary
  2. Ethylmalonic encephalopathy

Ethylmalonic encephalopathy

Definition:

Ethylmalonic encephalopathy (EE) is an autosomal recessive metabolic disease caused by mutations in the ETHE1 gene. EE is is characterized by early onset of neurological degeneration, chronic diarrhea, recurrent petechiae, orthostatic acrocyanosis, and death in the first years of life.

Biomedical Dictionary

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