Abstract
Biochemical findings in a case of acute onset lactic acidosis due to pyruvate carboxylase deficiency are presented. Oxaloacetate deficiency arising from the inactivity of pyruvate carboxylase produces abnormal cytosolic and mitochondrial redox states. The resultant altered metabolite pattern may allow a provisional diagnosis before enzymatic studies.
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Vidailhet, M., Lefebvre, E., Beley, G. et al. Neonatal lactic acidosis with pyruvate carboxylase inactivity. J Inherit Metab Dis 4, 131–132 (1981). https://doi.org/10.1007/BF02263625
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DOI: https://doi.org/10.1007/BF02263625