Cargando…

Ammonia and coma – a case report of late onset hemizygous ornithine carbamyltransferase deficiency in 68-year-old female

BACKGROUND: Acute hyperammonemia without signs of common causes in the elderly might be challenging to identify. We report the oldest case known to date of a female patient with late onset ornithine carbamyltransferase deficiency (OTC), which was unmasked after a protein overload due to nutritional...

Descripción completa

Detalles Bibliográficos
Autores principales: Marquetand, Justus, Freisinger, Peter, Lindig, Tobias, Euler, Sebastian, Gasser, Michael, Overkamp, Dietrich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7132961/
https://www.ncbi.nlm.nih.gov/pubmed/32252669
http://dx.doi.org/10.1186/s12883-020-01700-9