Alpha-ketoglutarate dehydrogenase deficiency

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]


Overview

Alpha-ketoglutarate dehydrogenase is an inborn error of the tricarboxylic acid cycle. It is thought to be caused by low molar ratios of ketone bodies in plasma of neonates with congenital lactic acidosis as an indication of dysfunction of the tricarboxylic acid cycle.


Symptoms

New borns present with

  • Hypotonia
  • Metabolic acidosis
  • Hyperlactatemia


Neurologic deterioration can result in death in the early days of life.[1]




References

  1. ↑ Bonnefont JP, Chretien D, Rustin P; et al. (1992). "Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis". J. Pediatr. 121 (2): 255–8. PMID 1640293. Unknown parameter |month= ignored (help)
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