Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis

J Pediatr. 1992 Aug;121(2):255-8. doi: 10.1016/s0022-3476(05)81199-0.


We report an inborn error of the tricarboxylic acid cycle, alpha-ketoglutarate dehydrogenase deficiency, in three siblings with hypotonia, metabolic acidosis, and hyperlactatemia immediately after birth. Neurologic deterioration resulted in death at about 30 months of age. We propose low molar ratios of ketone bodies in plasma of neonates with congenital lactic acidosis as an indication of dysfunction of the tricarboxylic acid cycle.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acidosis, Lactic / congenital
  • Acidosis, Lactic / etiology*
  • Acidosis, Lactic / genetics
  • Humans
  • Infant, Newborn
  • Ketoglutarate Dehydrogenase Complex / deficiency*
  • Ketone Bodies / blood
  • Lactates / blood
  • Lactic Acid
  • Male
  • Pyruvates / blood
  • Pyruvic Acid
  • Recurrence


  • Ketone Bodies
  • Lactates
  • Pyruvates
  • Lactic Acid
  • Pyruvic Acid
  • Ketoglutarate Dehydrogenase Complex