Article
Pyruvate carboxylase deficiency: a benign variant with normal development.
Pediatric research - 1 Jul 1991
Van Coster R N, Fernhoff P M, De Vivo D C
Abstract excerpt
The devastating nature of a pyruvate carboxylase deficiency is underscored by the uniformly fatal outcome of the neonatal (French) type and the severely disabling and ultimately fatal outcome of the infantile (North American) type. We report a 7-y-old girl with metabolic and biochemical features...
Topics
- Acidosis, Lactic
- Adaptation, Physiological
- Child
- Child Development
- Female
- Fibroblasts
- Humans
- Intelligence
- Phenotype
- Pyruvate Carboxylase Deficiency Disease
- Skin