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  1. Pyruvate Carboxylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK6852
    ... Search term GeneReviews Advanced Search Help < Prev Next > Pyruvate Carboxylase Deficiency Dong Wang , MD and Darryl De ... C. Normal values differ by laboratory. Lactate and pyruvate. The lack of PC enzyme activity causes the ...
  2. Pyruvate dehydrogenase deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/.../pyruvate-dehydrogenase-deficiency
    ... deficiency. Learn more about the genes associated with Pyruvate dehydrogenase deficiency DLAT PDHA1 PDHB PDHX PDP1 Inheritance ...
  3. Pyruvate carboxylase deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/.../pyruvate-carboxylase-deficiency
    ... deficiency. Learn more about the gene associated with Pyruvate carboxylase deficiency PC Inheritance This condition is inherited ...
  4. Pyruvate kinase deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/pyruvate-kinase-deficiency
    ... inherited. Learn more about the gene associated with Pyruvate kinase deficiency PKLR Inheritance This condition is inherited ...
  5. Pyruvate kinase deficiency 
    https://medlineplus.gov/ency/article/001197.htm
    Pyruvate kinase deficiency is an inherited lack of the enzyme pyruvate kinase, which is used by red blood cells. ... Pyruvate kinase deficiency (PKD) is passed down as an autosomal recessive trait. This means that a child ...
  6. Pyruvate kinase blood test 
    https://medlineplus.gov/ency/article/003357.htm
    The pyruvate kinase test measures the level of the enzyme pyruvate kinase in the blood. Pyruvate kinase is an enzyme found in red blood ... they can alter test results. The level of pyruvate kinase is then measured.
  7. MedlinePlus Drug Information: Mitapivat 
    https://medlineplus.gov/druginfo/meds/a622018.html
    ... be made in the body) in people with pyruvate kinase deficiency. Mitapivat is in a class of medications called pyruvate kinase activators. It works by increasing pyruvate kinase ...
  8. Alanine transaminase (ALT) blood test 
    https://medlineplus.gov/ency/article/003473.htm
    SGPT; Serum glutamate pyruvate transaminase; Alanine transaminase; Alanine aminotransferase
  9. DLAT gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/dlat
    ... energy source. Health Conditions Related to Genetic Changes Pyruvate dehydrogenase deficiency At least two mutations in the DLAT gene have been identified in individuals with pyruvate dehydrogenase deficiency; mutation of the DLAT gene is ...
  10. PC gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/pc
    ... nerve cells. Health Conditions Related to Genetic Changes Pyruvate carboxylase deficiency More than 30 mutations in the PC gene have been identified in people with pyruvate carboxylase deficiency. This condition causes lactic acid and ...
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