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Published on: November 20, 2015
[Neonatal lactic acidosis caused by severe pyruvate carboxylase deficiency]
B Merinero Cortés1, J del Valle Martínez, C Pérez-Cerdá Silvestre
1Departamento de Biología Molecular, Facultad de Ciencias, Universidad Autónoma, Madrid.
Abstract:
A new patient with neonatal lactic acidosis due to pyruvate carboxylase deficiency is described. Since birth he developed vomiting, hypothermia, lethargy, irritability, hypoglycemia and severe metabolic acidosis. During admission a progressive deterioration was observed. Despite different attempted therapies patient died at 4 1/2 months of age. High levels of plasma and urine lactate and pyruvate were detected. Enzymatic studies in cultures skin fibroblasts and postmortem tissues showed a severe deficiency of pyruvate carboxylase.
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