[Neonatal lactic acidosis caused by severe pyruvate carboxylase deficiency].
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.
D000140:Acidosis, Lactic / Q000201:enzymology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007773:Lactates / Q000097:blood; D019344:Lactic Acid; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology; D015324:Pyruvate Carboxylase Deficiency Disease; D011773:Pyruvates / Q000097:blood
D007773:Lactates; D011773:Pyruvates; D019344:Lactic Acid
Acidosis láctica neonatal debida a deficiencia aislada de piruvato carboxilasa.