Alpha-ketoglutarate dehydrogenase deficiency
Other Names: Alpha KGD deficiency; 2 alpha ketoglutarate dehydrogenase deficiency; Oxoglutaricaciduria
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.
NIH genetic and rare disease info[edit source]
Alpha-ketoglutarate dehydrogenase deficiency is a rare disease.
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