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.
MONDO:0004069
inborn mitochondrial metabolism disorder
is_a
MONDO:0016790
tricarboxylic acid cycle disorder
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
2 alpha ketoglutarate dehydrogenase deficiency
related
Alpha KGD deficiency
related
Alpha-ketoglutarate dehydrogenase deficiency
exact
oxoglutarate dehydrogenase deficiency
exact
SPBC3H7.03c