Article
An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.
European journal of pediatrics - 1 Jan 1998
Pérez-Cerdá C, Merinero B, Martí M, Cabrera J C, Peña L, García M J, Gangoiti J, Sanz P, Rodríguez-Pombo P, Hoenicka J, Richard E, Muro S, Ugarte M
Abstract excerpt
UNLABELLED: We report a 5-year-old boy with propionic acidaemia who developed a rapidly fatal necrosis of the basal ganglia after an episode of clinical deterioration. Neither metabolic acidosis nor hyperammonaemia were present. Organic acid analysis in both urine and CSF showed increased levels...
Topics
- Amino Acid Metabolism, Inborn Errors
- Basal Ganglia
- Basal Ganglia Diseases
- Carboxy-Lyases
- Child, Preschool
- Disease Progression
- Fatal Outcome
- Humans
- Magnetic Resonance Imaging
- Male
- Methylmalonyl-CoA Decarboxylase
- Mutation
- Necrosis