25 top medical experts on Alpha-ketoglutarate dehydrogenase deficiency across 2 countries. This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Alpha-ketoglutarate dehydrogenase deficiency: A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Synonyms: 2 alpha ketoglutarate dehydrogenase deficiency,  2-Ketoglutarate Dehydrogenase Deficiency,  Oxoglutaric Aciduria,  Oxoglutaricaciduria


  

        

                    


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