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Oxoglutaric aciduria

Disease definition

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.

ORPHA:31

  • Synonym(s):
    • Alpha-ketoglutarate dehydrogenase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E88.8
  • OMIM: 203740
  • UMLS: C2752074
  • MeSH: C536582
  • GARD: 617
  • MedDRA: -
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