Neonatal lactic acidosis with pyruvate carboxylase inactivity
β Scribed by M. Vidailhet; E. Lefebvre; G. Beley; C. Marsac
- Publisher
- Springer
- Year
- 1981
- Tongue
- English
- Weight
- 185 KB
- Volume
- 4
- Category
- Article
- ISSN
- 0141-8955
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Two children are described who suffered from episodes of metabolic acidosis and progressive mental and motor deterioration. The patients showed periodic elevation of blood lactate, pyruvate and alanine, which was accompanied by vomiting, hypotonia or convulsions. The concentrations of lactate and py
Six patients are described with a combination of early onset of neurological symptoms, gross cerebral changes and elevated concentrations of pyruvate and lactate in cerebrospinal fluid. Although at least five of the six patients appear to have a generalised defect in pyruvate metabolism, reflected i