| Autor: |
Merinero Cortés B; Departamento de Biología Molecular, Facultad de Ciencias, Universidad Autónoma, Madrid., del Valle Martínez J, Pérez-Cerdá Silvestre C, García Muñoz MJ, Cortés Coto MT, García Aparicio J, Sáez Pérez E, Ugarte Pérez M |
| Jazyk: |
Spanish; Castilian |
| Zdroj: |
Anales espanoles de pediatria [An Esp Pediatr] 1988 Jul; Vol. 29 (1), pp. 57-60. |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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