Numerous cases of pyruvate carboxylase (PC) deficiency have been reported since its first description in 1968.1 We had the opportunity to study four neonates with this disorder. All patients had similar clinical and biochemical findings. Symptoms started during the first day of life with acute metabolic acidosis and lethargy. Serum lactic acid was always high (10 to 20 mM) with a lactate-pyruvate ratio between 50 and 100. Serum βOH butyrate was normal or slightly elevated but the βOH butyrate-acetoacetate ratio was constantly less than 1.
- Copyright © 1981 by the American Academy of Pediatrics