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Results 1 - 8 of 8 for "Pyruvate%dehydrogenase%complex%deficiency"
  1. Pyruvate dehydrogenase deficiency 
    Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and ...
    https://medlineplus.gov/.../pyruvate-dehydrogenase-deficiency - Genetics
  2. PDHA1 gene 
    ... PDHA1 gene are the most common cause of pyruvate dehydrogenase deficiency, accounting for approximately 80 percent of cases of this condition. Pyruvate dehydrogenase deficiency is characterized by a potentially life-threatening buildup ...
    https://medlineplus.gov/genetics/gene/pdha1 - Genetics
  3. PDHB gene 
    ... PDHB gene are a very rare cause of pyruvate dehydrogenase deficiency. This condition is characterized by a potentially life- ... affected, resulting in the neurological problems associated with pyruvate dehydrogenase deficiency. More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/pdhb - Genetics
  4. DLAT gene 
    ... DLAT gene have been identified in individuals with pyruvate dehydrogenase deficiency; mutation of the DLAT gene is a very rare cause of this condition. Pyruvate dehydrogenase deficiency is characterized by a potentially life-threatening buildup ...
    https://medlineplus.gov/genetics/gene/dlat - Genetics
  5. PDP1 gene 
    ... PDP1 gene has been identified in individuals with pyruvate dehydrogenase deficiency; mutation of the PDP1 gene is a very rare cause of this condition. Pyruvate dehydrogenase deficiency is characterized by a potentially life-threatening buildup ...
    https://medlineplus.gov/genetics/gene/pdp1 - Genetics
  6. PDHX gene 
    ... energy source. Mutations in the PDHX gene cause pyruvate dehydrogenase deficiency in a small number of people. This condition ... and neurological problems. PDHX gene mutations associated with pyruvate dehydrogenase deficiency result in the complete absence of E3 binding ...
    https://medlineplus.gov/genetics/gene/pdhx - Genetics
  7. Carbohydrate Metabolism Disorders (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/carbohydratemetabolismdisorders.html - Health Topics
  8. 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