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Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.

Abstract
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.
AuthorsJ P Bonnefont, D Chretien, P Rustin, B Robinson, A Vassault, J Aupetit, C Charpentier, D Rabier, J M Saudubray, A Munnich
JournalThe Journal of pediatrics (J Pediatr) Vol. 121 Issue 2 Pg. 255-8 (Aug 1992) ISSN: 0022-3476 [Print] United States
PMID1640293 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Ketone Bodies
  • Lactates
  • Pyruvates
  • Lactic Acid
  • Pyruvic Acid
  • Ketoglutarate Dehydrogenase Complex
Topics
  • Acidosis, Lactic (congenital, etiology, genetics)
  • Humans
  • Infant, Newborn
  • Ketoglutarate Dehydrogenase Complex (deficiency)
  • Ketone Bodies (blood)
  • Lactates (blood)
  • Lactic Acid
  • Male
  • Pyruvates (blood)
  • Pyruvic Acid
  • Recurrence

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