Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.

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Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.

J P JP Bonnefont, D D Chretien, P P Rustin, B B Robinson, A A Vassault, J J Aupetit, C C Charpentier, D D Rabier, J M JM Saudubray and A A Munnich J Pediatr 121(2):255-8 (1992) PMID 1640293

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.

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