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Results 1 - 5 of 5 for Ethylmalonic encephalopathy
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  1. Ethylmalonic encephalopathy 
    Ethylmalonic encephalopathy is an inherited disorder that affects several body systems, particularly the nervous system. Neurological signs and ... acrocyanosis). Chronic diarrhea is another common feature of ethylmalonic encephalopathy.The signs and symptoms of ethylmalonic encephalopathy are ...
    https://medlineplus.gov/.../condition/ethylmalonic-encephalopathy - Genetics
  2. ETHE1 gene 
    ... ETHE1 gene have been identified in people with ethylmalonic encephalopathy. This rare condition affects many parts of the ... chronic diarrhea.Most of the mutations that cause ethylmalonic encephalopathy lead to the production of nonfunctional versions of ...
    https://medlineplus.gov/genetics/gene/ethe1 - Genetics
  3. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
    https://medlineplus.gov/geneticbraindisorders.html - Health Topics
  4. Mitochondrial Diseases (National Library of Medicine)  
    Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
    https://medlineplus.gov/mitochondrialdiseases.html - Health Topics
  5. Newborn Screening (National Library of Medicine)  
    Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include: Tests ...
    https://medlineplus.gov/newbornscreening.html - Health Topics