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16 results
  1. Thiamine-Responsive Megaloblastic Anemia Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1282
    ... posted live 25 August 2003 (ejn) Original submission ... dehydrogenase activity. J Pediatr. 1985; 107 :537–41. [ ...
  2. SLC25A19-Related Thiamine Metabolism Dysfunction - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1365
    ... hypomorphic allele. Activity of the pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase ... Reference Sequences DNA Nucleotide Change Predicted Protein Change Comment [ ...
  3. 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 ... Excellence (NICE); 2016 Jul. (NICE Guideline, No. 50.) References. PDF version of this title (3.7M) Other ...
  4. Childhood Cancer Genomics (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK374260
    ... a novel enzymatic activity that promotes conversion of alpha-ketoglutarate to 2-hydroxyglutarate.[ 363 , 364 ] This novel activity ... IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate. Cancer Cell 17 (3): 225- ...
  5. 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- ...
  6. 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, ...
  7. 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 ...
  8. 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. [ ...
  9. 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 ...
  10. Dihydrolipoamide Dehydrogenase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK220444
    ... Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Orphanet J Rare Dis. 2013; 8 :192. [ ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
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