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  1. Primary Pyruvate Dehydrogenase Complex Deficiency Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK571223
    ... term GeneReviews Advanced Search Help < Prev Next > Primary Pyruvate Dehydrogenase Complex Deficiency Overview Synonyms: PDH Deficiency (PDHD), ... with primary PDCD. 1. Clinical Characteristics of Primary Pyruvate Dehydrogenase Complex Deficiency Primary pyruvate dehydrogenase complex deficiency ( ...
  2. 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 Maria Laura Duque Lasio , MD, April ... selection criteria, click here . Kiana Research Foundation for Pyruvate Carboxylase Phone: 949-280-1455 Email: pcdeficiency@gmail. ...
  3. 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 ...
  4. Pyruvate kinase blood test 
    https://medlineplus.gov/ency/article/003357.htm
    The pyruvate kinase test measures the level of pyruvate kinase enzyme 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.
  5. 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 ...
  6. Alanine transaminase (ALT) blood test 
    https://medlineplus.gov/ency/article/003473.htm
    SGPT; Serum glutamate pyruvate transaminase; Alanine transaminase; Alanine aminotransferase
  7. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/pyruvate-carboxylase-deficiency</url><title >Pyruvate carboxylase deficiency</title>< ...
  8. Fructose-1,6-Bisphosphatase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK550349
    ... 2.2 mmol/L) with possible elevated lactate:pyruvate ratio and hyperalaninemia. Ketosis (individuals with low ketones ... analysis) is useful in differentiating the disorders. PC Pyruvate carboxylase deficiency 4 Episodes of acute vomiting, tachypnea, & ...
  9. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Pyruvate carboxylase deficiency</name><ghr-page >https://medlineplus.gov/ ...
  10. Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK542806
    ... al 2016 ] High lactate with normal lactate to pyruvate ratio peak on MR-spectroscopy [ Peters et al ... Tetreault et al 2015 ] Biochemical features Lactic acidosis. Pyruvate may be mildly elevated, elevated proportionally to the ...
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