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  1. Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK320989
    ... glycosylation defect Riley et al [2017] α-KGDH = alpha-ketoglutarate dehydrogenase; AR = autosomal recessive; BCAA = branched-chain amino ... Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Orphanet J Rare Dis. 2013; 8 :192. [ ...
  2. Childhood Acute Myeloid Leukemia Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK66019
    ... a novel enzymatic activity that promotes conversion of alpha-ketoglutarate to 2-hydroxyglutarate.[ 187 , 188 ] This novel activity ... IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate. Cancer Cell 17 (3): 225- ...
  3. Maple Syrup Urine Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1319
    ... of BCKD is shared with the pyruvate and alpha-ketoglutarate dehydrogenase complexes, and MSUD type 3 is characterized by increased urinary excretion of BCKAs and alpha-ketoglutarate accompanied by elevated plasma concentrations of lactate, pyruvate, ...
  4. GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes - GeneReviews® - NCBI ... 
    https://www.ncbi.nlm.nih.gov/books/NBK1374
    ... recessive disorder acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLIAK) (OMIM 618384 ), caused by biallelic pathogenic variants ...
  5. Fumarate Hydratase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1506
    ... reported. Diagnosis/testing. Isolated increased fumaric acid and alpha-ketoglutarate on urine organic acid analysis, combined with increased ... findings Finding of isolated increased fumaric acid and alpha-ketoglutarate on urine organic acid analysis combined with increased ...
  6. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... name >Familial hyperlysinemia</other_name><other_name >Lysine alpha-ketoglutarate reductase deficiency disease</other_name><other_name >Saccharopine ...
  7. Primary Pyruvate Dehydrogenase Complex Deficiency Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK571223
    ... valine w/or w/o alloisoleucine) ↑ citrulline ↑ urine alpha-ketoglutarate Founder variant in Ashkenazi Jewish population 4 PDHA1 ...
  8. References - Cirrhosis in Over 16s - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK385202
    ... GR, Tacconi C, Zoli G. Use of pyridoxine-alpha-ketoglutarate (PAK) in hepatic encephalopathy. International Journal of Clinical ...
  9. Clinical evidence tables - The Prevention and Management of Pressure Ulcers in Primary and Secondary Care - NCBI ... 
    https://www.ncbi.nlm.nih.gov/books/NBK333143
    ... J, et al. Efficacy and safety of ornithine alpha-ketoglutarate in heel pressure ulcers in elderly patients: results ...
  10. Carbonic Anhydrase VA Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK284774
    ... Nl ↓ Urine 3-OH butyrate ↑ ↑ ↑ Nl ↑ 3 Urine alpha-ketoglutarate ↑ ↓ ↑ Nl Nl Urine 3-OH propionic acid, propionylglycine, ...
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