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166 results
  1. 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 ...
  2. Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK320989
    ... CSF Other evidence of disturbed oxidative phosphorylation or pyruvate dehydrogenase activity Identification of pathogenic variant(s) in ... Mitochondrial membrane lipid remodeling, quality control, and dynamics; Pyruvate dehydrogenase (see Primary Pyruvate Dehydrogenase Complex Deficiency Overview ), ...
  3. Dihydrolipoamide Dehydrogenase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK220444
    ... BCKDH) complex, α-ketoglutarate dehydrogenase (αKGDH) complex, and pyruvate dehydrogenase (PDH) complex [ Chuang et al 2013 ]. The ... DLAT DLD PDHA1 PDHB PDHX PDK3 PDP1 Primary pyruvate dehydrogenase complex deficiency AR XL 4 Most commonly ...
  4. NLM Digital Collections - Monthly progress reports - Andrus - Smith 
    https://resource.nlm.nih.gov/101085500X267
    ... their study of the variations in blood lactate, pyruvate and other substances following performance of measured amounts ... were sub tantial inereases in resting. lactate ahd pyruvate,. There was . a slgnlficant decllne Lo in blcod ...
  5. NLM Digital Collections - Chemical warfare agents and related chemical problems (Parts 1-2) 
    Publication: Washington, D.C. : Office of Scientific Research and Development, National Defense Research Committe, Division 9, 1946
    resource.nlm.nih.gov/14111270RX1
    ... substrates than in the presence of glucose, lactate, pyruvate, or other carbohydrate intermediates. The degree of inhibition ... markedly affected by KB-16. Oxi- dation of pyruvate (utilization in presence of oxygen) was inhibited, but ...
  6. NLM Digital Collections - A bibliographical sourcebook of compressed air, diving, and submarine medicine (Volume 2) 
    Publication: Washington, D.C. : Research Division, Project X-427, Bureau of Medicine and Surgery, Navy Department, 1948-1966
    resource.nlm.nih.gov/59820860RX2
    ... the presence of glucose, sodium lactate, or sodium pyruvate. The respiration of minced brain in the presence ... so oxygen sensitive. The evidence points to the pyruvate oxidizing system as constituting that part of the ...
  7. SLC25A19-Related Thiamine Metabolism Dysfunction - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1365
    ... including urine organic acids, plasma amino acids, lactate, pyruvate, and electrolytes) is indicated for all children with ... it is under way, urine organic acids and pyruvate and lactate levels should be considered. Supplementation with ...
  8. Mitochondrial DNA-Associated Leigh Syndrome Spectrum - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1173
    ... Neurologic eval Brain MRI & MRS Plasma & CSF lactate & pyruvate Urine organic acids Consider EEG if seizures are ... Dichloroacetate (DCA) reduces blood lactate by activating the pyruvate dehydrogenase complex. Mixed clinical outcomes have been observed ...
  9. Citrullinemia Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1458
    ... most likely to have CTLN1, other conditions including pyruvate carboxylase deficiency and dihydrolipoamide dehydrogenase deficiency (see Differential ... citrin deficiency ), argininosuccinate lyase deficiency (argininosuccinic aciduria), ... carboxylase deficiency . Hyperammonemia. It is critical to distinguish ...
  10. Single Large-Scale Mitochondrial DNA Deletion Syndromes - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1203
    ... mg/dL (>1 g/L) Elevated lactate and pyruvate in blood and CSF; commonly elevated at rest ... Disease Validity: Leigh syndrome ), including defects of the pyruvate dehydrogenase complex (see Primary Pyruvate Dehydrogenase Complex Deficiency ...
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