Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism

BACKGROUND: Hyperammonemia, hypoglycemia, hepatopathy, and ventricular tachycardia are common presenting features of carnitine-acylcarnitine translocase deficiency (Mendelian Inheritance in Man database: *212138), a mitochondrial fatty acid oxidation disorder with a lethal prognosis. These features...

Descripción completa

Detalles Bibliográficos
Autores principales: Scaglia, Fernando, Scheuerle, Angela E, Towbin, Jeffrey A, Armstrong, Dawna L, Sweetman, Lawrence, Wong, Lee-Jun C
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2002
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC140035/
https://www.ncbi.nlm.nih.gov/pubmed/12507404
http://dx.doi.org/10.1186/1471-2431-2-12

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC140035/
https://www.ncbi.nlm.nih.gov/pubmed/12507404
http://dx.doi.org/10.1186/1471-2431-2-12

Ejemplares similares