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Results 1 - 6 of 6 for "Alpha-ketoglutarate" dehydrogenase deficiency
  1. Dihydrolipoamide dehydrogenase deficiency 
    ... gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. Hum Mutat. 2005 Mar;25(3):323-4. ...
    https://medlineplus.gov/...dihydrolipoamide-dehydrogenase-deficiency - Genetics
  2. Hyperlysinemia 
    ... Alpha-aminoadipic semialdehyde deficiency disease Familial hyperlysinemia Lysine alpha-ketoglutarate reductase deficiency disease Saccharopine dehydrogenase deficiency disease Saccharopinuria Genetic Testing Registry: Hyperlysinemia Genetic ...
    https://medlineplus.gov/genetics/condition/hyperlysinemia - Genetics
  3. DLD gene 
    ... involved in cellular energy production. This complex, called alpha-ketoglutarate dehydrogenase (αKGDH), ... dehydrogenase deficiency. The signs and symptoms of this severe condition ...
    https://medlineplus.gov/genetics/gene/dld - Genetics
  4. BOLA3 gene 
    ... mitochondria, including the pyruvate dehydrogenase complex and the alpha-ketoglutarate dehydrogenase complex. This modification is also critical to the ...
    https://medlineplus.gov/genetics/gene/bola3 - Genetics
  5. NFU1 gene 
    ... mitochondria, including the pyruvate dehydrogenase complex and the alpha-ketoglutarate dehydrogenase complex. This modification is also critical to the ...
    https://medlineplus.gov/genetics/gene/nfu1 - Genetics
  6. Multiple mitochondrial dysfunctions syndrome 
    ... mitochondria, including the pyruvate dehydrogenase complex and the alpha-ketoglutarate dehydrogenase complex (also known as the oxoglutarate dehydrogenase complex). ...
    https://medlineplus.gov/...tiple-mitochondrial-dysfunctions-syndrome - Genetics