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http://hdl.handle.net/10553/49397
Título: | An unusual late-onset case of propionic acidaemia: Biochemical investigations, neuroradiological findings and mutation analysis | Autores/as: | 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. |
Clasificación UNESCO: | 32 Ciencias médicas 320110 Pediatría |
Palabras clave: | Propionic acidaemia Basal ganglia PCC gene mutations |
Fecha de publicación: | 1998 | Publicación seriada: | European Journal of Pediatrics | Resumen: | 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 of methylcitric and 3-hydroxypropionic acids. Propionic acidaemia was confirmed by demonstrating a propionyl-CoA carboxylase deficiency (11% of control value) in skin fibroblasts. DNA analysis revealed that the patient was a compound heterozygote for two mutations in the PCCB gene. | URI: | http://hdl.handle.net/10553/49397 | ISSN: | 0340-6199 | DOI: | 10.1007/s004310050765 | Fuente: | European Journal of Pediatrics[ISSN 0340-6199],v. 157, p. 50-52 (Junio 1998) |
Colección: | Artículos |
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